ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300956
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190580
ClinVar RCV Id:
RCV000243482
RCV000529321
RCV000786100
RCV001144040
RCV001804900
RCV003422063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120965.1:p.Gln1691Arg
CA300953
NM_001127493.3:c.5072A>G