ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827830477
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171593
RCV000190218
ClinVar Variation:
191401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341203.1:p.Thr796Ile
CA204248
NM_001354274.2:c.2387C>T