ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028202
Gene: ALG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471233
ClinVar RCV Id:
RCV000555504
RCV001556239
RCV003915589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Arg165Gln
CA7890038
NM_001330504.2:c.494G>A