ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829071250
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190219
ClinVar Variation:
207942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373071.1:p.Lys1548Glu
CA204253
NM_001386142.1:c.4642A>G