ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580456905
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2320429
ClinVar RCV Id:
RCV002920089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Lys413Glu
CA386302492
NM_024312.5:c.1237A>G