Canonical Allele Identifier: PA2579794183
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly100Arg
CA410602015
NM_000071.3:c.298G>C
CA2579810131
NM_000071.3:c.298_300delinsAGG