Canonical Allele Identifier: PA2826133685
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 420089
ClinVar RCV Id: RCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Cys370Tyr
CA16621012
NM_001178009.3:c.1109G>A
CA2579811386
NM_001178009.3:c.1109_1110delinsAT