ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829071933
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000539884
RCV000998281
RCV002420360
ClinVar Variation:
457056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373071.1:p.Ser2577Leu
CA3051688
NM_001386142.1:c.7730C>T