ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826149703
Gene: PHF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171827.1:p.Val448Ala
CA16621455
NM_001184898.2:c.1343T>C