ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827317678
Gene: ALG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1961011
ClinVar RCV Id:
RCV002706767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Val253Ile
CA394673771
NM_001330504.2:c.757G>A