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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
Allele Registry
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Canonical Allele Identifier:
CA2610266454
Gene: CYP2C9
HGNC
NCBI
Linked Data
gnomAD v4:
10-94981141-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94981146dup , CM000672.2:g.94981146dup
GRCh38
NC_000010.10:g.96740903dup , CM000672.1:g.96740903dup
GRCh37
NC_000010.9:g.96730893dup
NCBI36
NG_008385.1:g.47489dup
NG_008385.2:g.47989dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.962-37dup
MANE Select
ENSP00000260682.6:n.962-37dup
ENST00000643112.1:c.820-37dup
ENSP00000496202.1:n.820-37dup
ENST00000260682.6:c.962-37dup
ENSP00000260682.6:n.962-37dup
NM_000771.3:c.962-37dup
NP_000762.2:n.962-37dup
NM_000771.4:c.962-37dup
MANE Select
NP_000762.2:n.962-37dup
Search 100 bp 5'
Search 100 bp 3'