ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091590
Gene: ARSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189224
ClinVar RCV Id:
RCV000169649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000037.2:p.Arg484Gly
CA199152
NM_000046.5:c.1450A>G