Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580417573

Gene: PHIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1716047

ClinVar RCV Id: RCV002295823

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060404.4:p.His182Pro	CA364643074 NM_017934.7:c.545A>C