Canonical Allele Identifier: PA251823
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1464
ClinVar RCV Id: RCV000001529 RCV001381874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Gly94Arg
CA251822
NM_001024382.2:c.280G>A
CA382891087
NM_001024382.2:c.280G>C