ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828065518
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393226
ClinVar RCV Id:
RCV001912519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Gly396Asp
CA10324726
NM_001362782.2:c.1187G>A