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: PA2829748202

Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 7051

ClinVar RCV Id: RCV000007467 RCV001851722

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_054642.2:p.Lys183Asn	CA254087 NM_013987.3:c.549A>T CA366466994 NM_013987.3:c.549A>C