Canonical Allele Identifier: PA2579794198
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly100His
CA2579810126
NM_000071.3:c.298_300delinsCAT
CA2579813750
NM_000071.3:c.298_299delinsCA