ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827804231
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000472336
RCV002436404
RCV002489021
RCV003221987
ClinVar Variation:
406486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341178.1:p.Arg917Cys
CA3050683
NM_001354249.2:c.2749C>T