Canonical Allele Identifier: PA2579796901
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro229His
CA410600609
NM_000071.3:c.686C>A
CA2579806579
NM_000071.3:c.686_687delinsAT