ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827803906
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170674
RCV002516546
RCV003165343
ClinVar Variation:
190544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341178.1:p.Val389Met
CA300780
NM_001354249.2:c.1165G>A