ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827809242
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170701
RCV000250831
RCV000698260
RCV000852553
RCV002478528
ClinVar Variation:
190571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341184.1:p.Thr1416Met
CA300913
NM_001354255.2:c.4247C>T