Canonical Allele Identifier: PA2579793802
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys82Arg
CA410602135
NM_000071.3:c.245A>G
CA2579806052
NM_000071.3:c.245_246delinsGA