Canonical Allele Identifier: PA2580207961
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1715020
ClinVar RCV Id: RCV002304455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Lys72Thr
CA410601263
NM_001321072.1:c.215A>C
CA2579806814
NM_001321072.1:c.215_216delinsCT