ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827814243
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170682
RCV003398876
ClinVar Variation:
190552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341189.1:p.Ser584Phe
CA300820
NM_001354260.2:c.1751C>T