ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645470642
Gene: HMBS
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001245137.1:p.Arg173Gln
NM_001258208.2:c.518G>A