ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113343
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39026
ClinVar RCV Id:
RCV000032291
RCV001852648
RCV002247409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Ile403Thr
CA343340
NM_024312.5:c.1208T>C