Canonical Allele Identifier: PA2579801599
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val449Ala
CA410396911
NM_000071.3:c.1346T>C
CA2579803002
NM_000071.3:c.1346_1347delinsCT