ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829100111
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000423348
RCV000463576
RCV000620461
RCV000764527
ClinVar Variation:
379553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Ala1748Gly
CA3051837
NM_001386166.1:c.5243C>G