ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826090430
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2531003
ClinVar RCV Id:
RCV003246275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Glu327Lys
CA6598998
NM_001173466.2:c.979G>A