Allele Registry

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.

Canonical Allele Identifier: PA2827070768

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 126

ClinVar RCV Id: RCV000000148 RCV000000149 RCV000078108 RCV000174656 RCV000781196 RCV002381232

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Asp339Asn	CA113893 NM_001321072.1:c.1015G>A CA2579811721 NM_001321072.1:c.1015_1017delinsAAT