ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829098727
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_001373091.1:p.Thr1375Met
CA300913
NM_001386162.1:c.4124C>T