ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499271944
Gene: ALG3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1054881
ClinVar RCV Id:
RCV001363470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005778.1:p.Leu184Phe
CA355421147
NM_005787.6:c.550C>T