ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830299158
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_689576.6:p.Ser470Leu
CA9291360
NM_152363.6:c.1409C>T