Canonical Allele Identifier: PA2826454859
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 161250
ClinVar RCV Id: RCV000148508 RCV000730694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Arg281His
CA272874
NM_001258208.2:c.842G>A