ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829087001
Gene: ATXN2L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2383851
ClinVar RCV Id:
RCV004219608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374111.1:p.Ala904Val
CA7985075
NM_001387182.1:c.2711C>T