Canonical Allele Identifier: PA2579794699
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu124Pro
CA410601845
NM_000071.3:c.371T>C
CA2579807919
NM_000071.3:c.371_372delinsCA
CA2579807921
NM_000071.3:c.371_372delinsCC