ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300818
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190551
ClinVar RCV Id:
RCV000170681
RCV000461769
RCV000852969
RCV002408736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120965.1:p.Ala616Val
CA300815
NM_001127493.3:c.1847C>T