ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065292
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68159
ClinVar RCV Id:
RCV000058991
RCV000578460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Thr220Met
CA219074
NM_001362782.2:c.659C>T