ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827823490
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191533
ClinVar RCV Id:
RCV000171736
RCV000621489
RCV001050790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341197.1:p.Ala393Thr
CA236921
NM_001354268.2:c.1177G>A