ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573079225
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519530
ClinVar RCV Id:
RCV000621705
RCV001868116
RCV003333753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373103.1:p.Phe2930Val
CA3051804
NM_001386174.1:c.8788T>G