Canonical Allele Identifier: PA645470650
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_001245137.1:p.Arg201Trp
CA251820
NM_001258208.2:c.601C>T