ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827836246
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000443671
RCV001078512
RCV001290572
RCV002450961
RCV003418111
ClinVar Variation:
377479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341209.1:p.Arg757Leu
CA3052173
NM_001354280.2:c.2270G>T