ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826598022
Gene: ANKLE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2328325
ClinVar RCV Id:
RCV004171998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265373.2:p.Val225Ala
CA9291164
NM_001278444.2:c.674T>C