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: PA2741935816

Gene: KERA HGNC NCBI

Linked Data

ClinVar Variation Id: 2912464

ClinVar RCV Id: RCV003734939

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008966.1:p.Arg279Gln	CA6716496 NM_007035.4:c.836G>A