ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825518319
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1496080
ClinVar RCV Id:
RCV001991704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Gln234Glu
CA412176698
NM_001085425.3:c.700C>G