Canonical Allele Identifier: PA2829100459
Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406495
ClinVar RCV Id: RCV000839301 RCV001081178 RCV002393097 RCV002489022
ClinVar Variation Id: 449744
ClinVar RCV Id: RCV000519386 RCV000690898 RCV001704661 RCV002395248 RCV003962447
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373095.1:p.Arg2254Ser
CA3052059
NM_001386166.1:c.6762G>T
CA3052060
NM_001386166.1:c.6762G>C