ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829135728
Gene: ATXN2L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3132249
ClinVar RCV Id:
RCV004421177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374128.1:p.Ser914Asn
CA7985096
NM_001387199.1:c.2741G>A