ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916060896
Gene: ARSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
559772
ClinVar RCV Id:
RCV000677549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942002.1:p.Pro116His
CA3318286
NM_198709.3:c.347C>A