Canonical Allele Identifier: PA2825333247
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1494801
ClinVar RCV Id: RCV001989603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Val284Ile
CA382898960
NM_001024382.2:c.850G>A