ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829071551
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000157109
RCV000227317
RCV000251053
RCV000625124
RCV001699212
ClinVar Variation:
180270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373071.1:p.Arg1991His
CA346171
NM_001386142.1:c.5972G>A