ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829080900
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
189221
ClinVar RCV:
RCV000171736
RCV000621489
RCV001050790
ClinVar Variation:
191533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373077.1:p.Ala389Thr
CA236921
NM_001386148.2:c.1165G>A