ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826598166
Gene: ANKLE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3121398
ClinVar RCV Id:
RCV004408256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265374.2:p.Ser430Leu
CA9291360
NM_001278445.2:c.1289C>T