Canonical Allele Identifier: PA2580181761
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2137262
ClinVar RCV Id: RCV003062462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Leu42Ser
CA382888459
NM_001258208.2:c.125T>C