Canonical Allele Identifier: PA2573164356
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1399638
ClinVar RCV Id: RCV001917788 RCV003401855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Ala249Thr
CA6314169
NM_000190.4:c.745G>A