Canonical Allele Identifier: PA2579795791
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_000062.1:p.Lys177Thr
CA410601263
NM_000071.3:c.530A>C
CA2579806814
NM_000071.3:c.530_531delinsCT