ClinGen Allele Registry
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Canonical Allele Identifier:
PA300982
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170718
RCV000804516
RCV002354416
RCV002492696
ClinVar Variation:
190585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Asp3853Asn
CA300978
NM_001148.6:c.11557G>A