ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826090553
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2359070
ClinVar RCV Id:
RCV002980096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Arg460His
CA6598819
NM_001173466.2:c.1379G>A