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: PA915985555

Gene: KCNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426760

ClinVar RCV Id: RCV000489146 RCV001851315

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004967.1:p.Val425Met	CA379808912 NM_004976.4:c.1273G>A