ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827317613
Gene: ALG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2171978
ClinVar RCV Id:
RCV003087194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Thr234Ile
CA394673006
NM_001330504.2:c.701C>T