Canonical Allele Identifier: PA645470646
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 372379
ClinVar RCV Id: RCV000413917 RCV000779045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Asp178Asn
CA6314087
NM_001258208.2:c.532G>A