ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825830886
Gene: ATXN1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004421129
ClinVar Variation:
3132201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001131147.1:p.Asp452His
CA283631248
NM_001137675.4:c.1354G>C