ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485728
Gene: PHF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055922.1:p.Val448Ala
CA16621455
NM_015107.3:c.1343T>C