ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970849
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3094
ClinVar RCV Id:
RCV000003240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Pro427Thr
CA116013
NM_001085427.3:c.1279C>A