ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829135680
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_001374127.1:p.Ser937Asn
CA7985096
NM_001387198.1:c.2810G>A