ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827317665
Gene: ALG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95931
ClinVar RCV Id:
RCV000081981
RCV000210723
RCV000851230
RCV001795148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317433.1:p.Ala249Val
CA223551
NM_001330504.2:c.746C>T