Canonical Allele Identifier: PA2826454832
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1939931
ClinVar RCV Id: RCV002658154

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Gly247Ser
CA6314252
NM_001258208.2:c.739G>A