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: PA916050188

Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 206337

ClinVar RCV Id: RCV000188374 RCV002514027 RCV002317137

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065817.2:p.Pro561Arg	CA316366 NM_020766.3:c.1682C>G