Canonical Allele Identifier: PA645470636
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1446
ClinVar RCV Id: RCV000001511 RCV000520560 RCV003764510 RCV003764509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Arg167Gln
CA251795
NM_001258208.2:c.500G>A