ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826090434
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2589379
ClinVar RCV Id:
RCV003340246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Arg328His
CA6598995
NM_001173466.2:c.983G>A