Canonical Allele Identifier: PA251817
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1457
ClinVar RCV Id: RCV000001522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg167Leu
CA251815
NM_000190.4:c.500G>T