ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829103105
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_001373104.1:p.Val427Met
CA300780
NM_001386175.1:c.1279G>A