ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091632
Gene: ASL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203613
ClinVar RCV Id:
RCV000454306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000039.2:p.Arg182Gln
CA312323
NM_000048.4:c.545G>A