ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645509993
Gene: PHF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438300
ClinVar RCV Id:
RCV000505186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115711.2:p.Thr256del
CA645509233
NM_032335.3:c.766_768del