ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826149745
Gene: PHF8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2558103
ClinVar RCV Id:
RCV003295720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171827.1:p.Ser718Leu
CA329924353
NM_001184898.2:c.2153C>T