ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916049319
Gene: ANKLE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
789115
ClinVar RCV Id:
RCV000971673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689576.6:p.Val447Met
CA9291332
NM_152363.6:c.1339G>A