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: PA2826132646

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 189185

ClinVar RCV Id: RCV000169617 RCV001251397 RCV002228615

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171479.1:p.Leu101Pro	CA274473 NM_001178008.3:c.302T>C CA2579813640 NM_001178008.3:c.302_303delinsCA