ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829100073
Gene: ANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000621705
RCV001868116
RCV003333753
ClinVar Variation:
519530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373095.1:p.Phe1683Val
CA3051804
NM_001386166.1:c.5047T>G