ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580453696
Gene: ALG12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2083947
ClinVar RCV Id:
RCV002994454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077010.1:p.Gln386Glu
CA325424714
NM_024105.4:c.1156C>G