ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247349
Gene: PHF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115834.1:p.Ile230Val
CA247345
NM_032458.3:c.688A>G