ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580138958
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2081393
ClinVar RCV Id:
RCV002994252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Pro220Thr
CA10324953
NM_001085427.3:c.658C>A