Canonical Allele Identifier: PA2579793888
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu9Leu
CA2579810144
NM_000071.3:c.25_27delinsCTT
CA2579810145
NM_000071.3:c.25_27delinsTTG