Canonical Allele Identifier: PA645471962
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1445
ClinVar RCV Id: RCV000001510 RCV001212053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Arg99Trp
CA251793
NM_001258209.2:c.295C>T