Canonical Allele Identifier: PA2579791964
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu492Arg
CA410395883
NM_000071.3:c.1475T>G
CA2579807133
NM_000071.3:c.1475_1476delinsGG
CA2579807134
NM_000071.3:c.1475_1476delinsGT