Canonical Allele Identifier: PA2579794116
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys97Ala
CA2579806017
NM_000071.3:c.289_291delinsGCT
CA2579806019
NM_000071.3:c.289_290delinsGC