Canonical Allele Identifier: PA2499243191
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1030657
ClinVar RCV Id: RCV001332261
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Leu92Pro
CA382890512
NM_001258208.2:c.275T>C