ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300706
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190524
ClinVar RCV Id:
RCV000170652
RCV003532007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Val815Ile
CA300702
NM_001148.6:c.2443G>A