Canonical Allele Identifier: PA2579797183
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln243Val
CA2579810883
NM_000071.3:c.727_728delinsGT
CA2579810884
NM_000071.3:c.727_729delinsGTT