ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826597931
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_001265372.2:p.Ser433Leu
CA9291360
NM_001278443.2:c.1298C>T