ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830070963
Gene: PHF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115711.2:p.Ser49Leu
CA414710931
NM_032335.3:c.146C>T