ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091588
Gene: ARSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445292
ClinVar RCV Id:
RCV000656130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000037.2:p.Arg160Gln
CA360193893
NM_000046.5:c.479G>A