ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825519506
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68132
ClinVar RCV Id:
RCV000058963
RCV000667286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.His140Asp
CA219020
NM_001085427.3:c.418C>G