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: PA2825172222

Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 803759

ClinVar RCV Id: RCV000990528

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000435.3:p.Glu499delinsAspGln	CA915950811 NM_000444.6:c.1496_1497insTCA