ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825283834
Gene: ALG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306213
ClinVar RCV Id:
RCV000734273
RCV001078924
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007028.1:p.Ser404Leu
CA6203184
NM_001007027.2:c.1211C>T