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: PA2830345126

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21770

ClinVar RCV Id: RCV000678063 RCV003315297

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg570Ser	CA342475 NM_172106.3:c.1710A>T CA409640538 NM_172106.3:c.1710A>C