ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109990
Gene: PHEX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000435.3:p.Leu555Pro
NM_000444.6:c.1664T>C