ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829100514
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538991
RCV001570471
RCV002413450
RCV002506295
ClinVar Variation:
457012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Ile2343Val
CA3052094
NM_001386166.1:c.7027A>G