ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065135
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68144
ClinVar RCV Id:
RCV000058975
RCV000664907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Tyr117Cys
CA219044
NM_001362782.2:c.350A>G