ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829103512
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2914818
ClinVar RCV Id:
RCV003649062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373104.1:p.Ile1117Val
CA357935838
NM_001386175.1:c.3349A>G