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: PA2741935815

Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 2999315

ClinVar RCV Id: RCV003851946

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008966.1:p.Asn247Asp	CA386013445 NM_007035.4:c.739A>G