ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829080939
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_001373077.1:p.Val414Met
CA300780
NM_001386148.2:c.1240G>A