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: PA2829072134

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1318565

ClinVar RCV Id: RCV001753340

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373071.1:p.Ser2855Phe	CA3051833 NM_001386142.1:c.8564C>T