Canonical Allele Identifier: PA2579791963
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu492Val
CA410395891
NM_000071.3:c.1474C>G
CA2579807115
NM_000071.3:c.1474_1476delinsGTT