Canonical Allele Identifier: PA2579794185
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly100Asp
CA410602011
NM_000071.3:c.299G>A
CA2579813751
NM_000071.3:c.299_300delinsAT