ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829088249
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000631636
RCV001721096
RCV002426806
ClinVar Variation:
190522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373080.1:p.Thr653Ile
CA300692
NM_001386151.1:c.1958C>T