ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805348
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000619782
RCV000631659
RCV001591384
ClinVar Variation:
519475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Pro2796Leu
CA3051758
NM_001148.6:c.8387C>T