Canonical Allele Identifier: PA2579801552
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr5Leu
CA2579803648
NM_000071.3:c.13_15delinsCTG
CA2579803649
NM_000071.3:c.13_15delinsTTG