Canonical Allele Identifier: PA2826454833
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2895844
ClinVar RCV Id: RCV003730598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Asp249Ala
CA382898812
NM_001258208.2:c.746A>C