ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827807649
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191399
ClinVar RCV Id:
RCV000171591
RCV000247687
RCV001217739
RCV002478545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341183.1:p.Gln683Glu
CA236521
NM_001354254.2:c.2047C>G