ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300705
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170652
RCV003532007
ClinVar Variation:
190524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120965.1:p.Val794Ile
CA300702
NM_001127493.3:c.2380G>A