Canonical Allele Identifier: PA2825333213
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_001019553.1:p.Ala232Thr
CA6314169
NM_001024382.2:c.694G>A