ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827832650
Gene: ANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341205.1:p.Ile748Val
CA3050520
NM_001354276.2:c.2242A>G