Canonical Allele Identifier: PA645470607
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1485
ClinVar RCV Id: RCV003764513

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Leu81Pro
CA251843
NM_001258208.2:c.242T>C