Canonical Allele Identifier: PA2579792220
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu503Gln
CA410395726
NM_000071.3:c.1508T>A
CA2579807075
NM_000071.3:c.1508_1509delinsAA