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: PA2830346585

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 392705

ClinVar RCV Id: RCV000434548 RCV001865397

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Met211Val	CA16608425 NM_172108.3:c.631A>G