Canonical Allele Identifier: PA2580055407
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 715912
ClinVar RCV Id: RCV000888463 RCV001104609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Ser45Leu
CA6313913
NM_000190.4:c.134C>T