ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580417682
Gene: PHIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982278
ClinVar RCV Id:
RCV002766672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060404.4:p.Val1647Ile
CA364633642
NM_017934.7:c.4939G>A