ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800333
Gene: PHF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523390
ClinVar RCV Id:
RCV000626726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001015877.1:p.Arg319Pro
CA414707939
NM_001015877.2:c.956G>C