Canonical Allele Identifier: PA2579795810
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val178Thr
CA2579803296
NM_000071.3:c.532_533delinsAC
CA2579803297
NM_000071.3:c.532_534delinsACT