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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1929349812
Gene: CYP2C9
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94988977_94988978delinsTG , CM000672.2:g.94988977_94988978delinsTG
GRCh38
NC_000010.10:g.96748734_96748735delinsTG , CM000672.1:g.96748734_96748735delinsTG
GRCh37
NC_000010.9:g.96738724_96738725delinsTG
NCBI36
NG_008385.1:g.55320_55321delinsTG
NG_008385.2:g.55820_55821delinsTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.1422_1423delinsTG
MANE Select
ENSP00000260682.6:p.Asn474=
ENST00000643112.1:c.*431_*432delinsTG
ENSP00000496202.1:n.*431_*432delinsTG
ENST00000260682.6:c.1422_1423delinsTG
ENSP00000260682.6:p.Asn474=
NM_000771.3:c.1422_1423delinsTG
NP_000762.2:p.Asn474=
NM_000771.4:c.1422_1423delinsTG
MANE Select
NP_000762.2:p.Asn474=
Search 100 bp 5'
Search 100 bp 3'