ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111549
Gene: HPGD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000851.2:p.Ser193Pro
NM_000860.6:c.577T>C