ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827751348
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1738875
ClinVar RCV Id:
RCV002328086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341154.1:p.Lys1817Met
CA357943498
NM_001354225.2:c.5450A>T