ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827753211
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170657
RCV000620201
RCV000631720
RCV001150175
ClinVar Variation:
190529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341157.1:p.Arg1450Gln
CA300722
NM_001354228.2:c.4349G>A