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: PA2741912411

Gene: KCNQ3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2786931

ClinVar RCV Id: RCV003748641

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004510.1:p.Met296Ile	CA372290392 NM_004519.4:c.888G>T CA372290393 NM_004519.4:c.888G>C CA372290394 NM_004519.4:c.888G>A