ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826090428
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
797998
ClinVar RCV Id:
RCV000981492
RCV001110208
RCV002548455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Ser324Phe
CA6599000
NM_001173466.2:c.971C>T