Canonical Allele Identifier: PA658671223
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 452525
ClinVar RCV Id: RCV000521233 RCV000764956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg246His
CA6314167
NM_000190.4:c.737G>A