ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236946
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000171744
RCV000426638
RCV000621823
RCV000625125
RCV000852972
RCV001082214
ClinVar Variation:
188143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Glu2378Lys
CA236944
NM_001148.6:c.7132G>A