Canonical Allele Identifier: PA2827070737
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 551308
ClinVar RCV Id: RCV000666335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ile330Thr
CA410397108
NM_001321072.1:c.989T>C
CA2579808102
NM_001321072.1:c.989_990delinsCA