ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829099975
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000541542
RCV000619771
RCV001584245
ClinVar Variation:
457059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Arg1547Cys
CA3051735
NM_001386166.1:c.4639C>T