Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827836219

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222497

ClinVar RCV Id: RCV000208430 RCV000412995 RCV000619380 RCV000764530 RCV001252393 RCV001078702

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341209.1:p.His725Gln	CA074011 NM_001354280.2:c.2175T>G CA357941445 NM_001354280.2:c.2175T>A