ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829778775
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_055922.1:p.Ser735Leu
CA329924353
NM_015107.3:c.2204C>T