ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219059
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68151
ClinVar RCV Id:
RCV000058982
RCV000668155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Asp283Tyr
CA219058
NM_000487.5:c.847G>T