ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300917
Gene: ANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001139.3:p.Thr1437Met
NM_001148.6:c.4310C>T