ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829907860
Gene: ALG13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2438993
ClinVar RCV Id:
RCV003141328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060936.1:p.Leu96Phe
CA414248620
NM_018466.6:c.286C>T