Canonical Allele Identifier: PA2826132641
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 236937
ClinVar RCV Id: RCV001854831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Phe99Leu
CA10583890
NM_001178008.3:c.297C>G
CA410602017
NM_001178008.3:c.297C>A
CA410602021
NM_001178008.3:c.295T>C
CA2579805991
NM_001178008.3:c.295_297delinsCTG
CA2579805992
NM_001178008.3:c.295_297delinsCTT