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: PA2829082712

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67599

ClinVar RCV Id: RCV000589585 RCV000620213 RCV000852980 RCV001150178 RCV001085479 RCV001841765 RCV001256867 RCV003974947

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373077.1:p.Val1544Asp	CA145025 NM_001386148.2:c.4631T>A