ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061092
Gene: ARSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166694
ClinVar RCV Id:
RCV000152796
RCV000664046
RCV003415996
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942002.1:p.Arg315Gln
CA233482
NM_198709.3:c.944G>A