ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145053
Gene: ANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120965.1:p.Val687Met
NM_001127493.3:c.2059G>A