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: PA2827806460

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 190552

ClinVar RCV Id: RCV000170682 RCV003398876

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341182.1:p.Ser592Phe	CA300820 NM_001354253.2:c.1775C>T