Canonical Allele Identifier: PA2579796553
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu213Phe
CA2579810031
NM_000071.3:c.637_639delinsTTC
CA2579810032
NM_000071.3:c.637_639delinsTTT