ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826090396
Gene: AAAS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
198632
ClinVar RCV:
RCV000184015
ClinVar Variation:
202169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Val280Ala
CA203842
NM_001173466.2:c.839T>C