ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580138999
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2045685
ClinVar RCV Id:
RCV002908822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Glu275Gln
CA412175943
NM_001085427.3:c.823G>C