ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113507
Gene: PHF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001015877.1:p.Lys234Glu
NM_001015877.2:c.700A>G