ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827805996
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170715
RCV000703371
RCV001145850
RCV002453575
ClinVar Variation:
190582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341181.1:p.Pro1729Ala
CA300963
NM_001354252.2:c.5185C>G