ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829089387
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190522
ClinVar RCV Id:
RCV000631636
RCV001721096
RCV002426806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373081.1:p.Thr730Ile
CA300692
NM_001386152.1:c.2189C>T