Canonical Allele Identifier: PA2579801370
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu438Thr
CA2579807222
NM_000071.3:c.1312_1314delinsACG
CA2579807224
NM_000071.3:c.1312_1314delinsACT