Canonical Allele Identifier: PA2579794263
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu104Ala
CA410601990
NM_000071.3:c.311A>C
CA2579810853
NM_000071.3:c.311_312delinsCT