ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519016
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526830
ClinVar RCV Id:
RCV000631448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078895.2:p.Ser227Pro
CA412176900
NM_001085426.3:c.679T>C