ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099017
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5045
ClinVar RCV Id:
RCV000005348
RCV000311283
RCV000415076
RCV000624696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056480.1:p.Ser263Pro
CA117228
NM_015665.6:c.787T>C