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: PA199908

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67597

ClinVar RCV Id: RCV000058342 RCV000170658 RCV000171796 RCV000618704 RCV001150176 RCV001705712

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120965.1:p.Leu1527Val	CA199905 NM_001127493.3:c.4579C>G