ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580159597
Gene: ATXN1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004125852
ClinVar Variation:
2271144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001131147.1:p.Arg669Cys
CA283631660
NM_001137675.4:c.2005C>T