ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825313630
Gene: PHF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001015877.1:p.Cys292Tyr
CA16621202
NM_001015877.2:c.875G>A