ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741837816
Gene: ANK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2658569
ClinVar RCV Id:
RCV003423913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135918.1:p.Glu1764Lys
CA4727356
NM_001142446.2:c.5290G>A