ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336739
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216528
ClinVar RCV Id:
RCV000196821
RCV000486245
RCV001145633
RCV002415855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Ser2715Phe
CA336737
NM_001148.6:c.8144C>T