Canonical Allele Identifier: PA251812
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1455
ClinVar RCV Id: RCV000001520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Gln17Lys
CA251811
NM_001024382.2:c.49C>A