ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098998
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5044
ClinVar RCV Id:
RCV000005347
RCV000255807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056480.1:p.Gln15Lys
CA117227
NM_015665.6:c.43C>A