ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830079694
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_115834.1:p.Thr255del
CA645509233
NM_032458.3:c.763_765del