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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:
CA377677025
Gene: CYP2C9
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.96748691C>G (hg19)
chr10:g.94988934C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94988934C>G , CM000672.2:g.94988934C>G
GRCh38
NC_000010.10:g.96748691C>G , CM000672.1:g.96748691C>G
GRCh37
NC_000010.9:g.96738681C>G
NCBI36
NG_008385.1:g.55277C>G
NG_008385.2:g.55777C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.1379C>G
MANE Select
ENSP00000260682.6:p.Ser460Cys
ENST00000643112.1:c.*388C>G
ENSP00000496202.1:n.*388C>G
ENST00000260682.6:c.1379C>G
ENSP00000260682.6:p.Ser460Cys
NM_000771.3:c.1379C>G
NP_000762.2:p.Ser460Cys
NM_000771.4:c.1379C>G
MANE Select
NP_000762.2:p.Ser460Cys
Search 100 bp 5'
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