ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188853
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1323931
ClinVar RCV Id:
RCV001785964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Thr281Ile
CA325531453
NM_000487.5:c.842C>T