ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471961
Gene: HMBS
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001245138.1:p.Gly94Arg
NM_001258209.2:c.280G>A
NM_001258209.2:c.280G>C