ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829135875
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_001374132.1:p.Ala835Val
CA7985075
NM_001387203.1:c.2504C>T