Canonical Allele Identifier: PA645470640
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1456
ClinVar RCV Id: RCV000001521 RCV000489906 RCV003764512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Arg167Trp
CA251813
NM_001258208.2:c.499C>T