Canonical Allele Identifier: PA2826133583
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 936814
ClinVar RCV Id: RCV001205699 RCV002240961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ala288Ser
CA321091499
NM_001178009.3:c.862G>T
CA2579812911
NM_001178009.3:c.862_864delinsAGT
CA2579812912
NM_001178009.3:c.862_864delinsTCT