ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829135632
Gene: ATXN2L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2455097
ClinVar RCV Id:
RCV004254018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374126.1:p.Ala986Thr
CA7985157
NM_001387197.1:c.2956G>A