ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580159581
Gene: ATXN1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004197277
ClinVar Variation:
2353899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001131147.1:p.Pro247Thr
CA283630729
NM_001137675.4:c.739C>A