ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827830374
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190552
ClinVar RCV Id:
RCV000170682
RCV003398876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341203.1:p.Ser617Phe
CA300820
NM_001354274.2:c.1850C>T