ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827317491
Gene: ALG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377012
ClinVar RCV Id:
RCV000438483
RCV002488867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Leu168Val
CA16603231
NM_001330504.2:c.502C>G