ClinGen Allele Registry
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Canonical Allele Identifier:
PA645394117
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
414959
ClinVar RCV:
RCV000489329
RCV000617304
RCV001043339
ClinVar Variation:
426274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Ile1594Met
CA3051142
NM_001148.6:c.4782T>G