ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825519249
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68117
ClinVar RCV Id:
RCV000058947
RCV000672049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078895.2:p.His399Tyr
CA218990
NM_001085426.3:c.1195C>T