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: PA2830065906

Gene: PCDHA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 279578

ClinVar RCV Id: RCV000508600

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114037.1:p.Arg543His	CA3454461 NM_031849.3:c.1628G>A