ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891863303
Gene: PHIP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060404.4:p.Ser287Tyr
NM_017934.7:c.860C>A