Canonical Allele Identifier: PA2579791952
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg491Gly
CA410395896
NM_000071.3:c.1471C>G
CA2579811903
NM_000071.3:c.1471_1473delinsGGA
CA2579811904
NM_000071.3:c.1471_1473delinsGGG
CA2579811905
NM_000071.3:c.1471_1473delinsGGT