Canonical Allele Identifier: PA2579802440
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys488Ala
CA2579806672
NM_000071.3:c.1462_1464delinsGCG
CA2579806673
NM_000071.3:c.1462_1464delinsGCT