ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825518370
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716214
ClinVar RCV Id:
RCV002303292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Leu273Pro
CA412175978
NM_001085425.3:c.818T>C