Canonical Allele Identifier: PA2579794443
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe112Gly
CA2579806246
NM_000071.3:c.334_336delinsGGG
CA2579806248
NM_000071.3:c.334_336delinsGGT