Canonical Allele Identifier: PA2579801234
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly432Ala
CA410397164
NM_000071.3:c.1295G>C
CA2579809618
NM_000071.3:c.1295_1296delinsCA
CA2579809619
NM_000071.3:c.1295_1296delinsCT