ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970682
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075
ClinVar RCV Id:
RCV000003221
RCV000169246
RCV000991546
RCV003904799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Thr276Met
CA115985
NM_001085427.3:c.827C>T