Canonical Allele Identifier: PA2579792006
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp494Ala
CA410395861
NM_000071.3:c.1481A>C
CA2579811209
NM_000071.3:c.1481_1482delinsCG
CA2579811210
NM_000071.3:c.1481_1482delinsCT
CA2579813809
NM_000071.3:c.1481_1482delinsCA