ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827759742
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552995
RCV000621641
RCV001550111
ClinVar Variation:
457014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341161.1:p.Arg1586His
CA3052174
NM_001354232.2:c.4757G>A