Canonical Allele Identifier: PA2826455034
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1462
ClinVar RCV Id: RCV000001527 RCV000432186
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Arg184Trp
CA251820
NM_001258209.2:c.550C>T