ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829100046
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000461075
RCV000612463
RCV002411439
ClinVar Variation:
406490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Pro1651Leu
CA3051787
NM_001386166.1:c.4952C>T