ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829100007
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519475
ClinVar RCV Id:
RCV000619782
RCV000631659
RCV001591384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Pro1596Leu
CA3051758
NM_001386166.1:c.4787C>T