ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573163769
Gene: GLDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1434661
ClinVar RCV Id:
RCV001955051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000161.2:p.Leu681Ile
CA372881827
NM_000170.3:c.2041C>A