Canonical Allele Identifier: PA645499919
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 340091
ClinVar RCV Id: RCV000310277 RCV002510881 RCV003495126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu101Val
CA10653007
NM_000071.3:c.301C>G
CA2579808301
NM_000071.3:c.301_303delinsGTT