Canonical Allele Identifier: PA2579794299
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu105Pro
CA410601981
NM_000071.3:c.314T>C
CA2579808283
NM_000071.3:c.314_315delinsCG