Canonical Allele Identifier: PA2579792354
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu510Arg
CA410395651
NM_000071.3:c.1529T>G
CA2579806980
NM_000071.3:c.1529_1530delinsGA
CA2579806981
NM_000071.3:c.1529_1530delinsGT