Canonical Allele Identifier: PA2573068023
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1333909
ClinVar RCV Id: RCV001809124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Thr78Ser
CA382889813
NM_001258208.2:c.232A>T
CA382889827
NM_001258208.2:c.233C>G