ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519959
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_001078897.1:p.Gln148Glu
CA412176698
NM_001085428.3:c.442C>G