ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252111
Gene: ALG3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2131
ClinVar RCV Id:
RCV000002213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005778.1:p.Met157Lys
CA252110
NM_005787.6:c.470T>A