Canonical Allele Identifier: PA2573164362
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1489767
ClinVar RCV Id: RCV001983429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val316Ala
CA6314289
NM_000190.4:c.947T>C