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: PA2829531312

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067283

ClinVar RCV Id: RCV001378502

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Ile512Val	CA409645172 NM_004518.5:c.1534A>G