ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829778834
Gene: PHF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055922.1:p.Ser946Leu
CA413240934
NM_015107.3:c.2837C>T