ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113369
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774
ClinVar RCV Id:
RCV000002903
RCV000031965
RCV000669013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Lys4Gln
CA252414
NM_024312.5:c.10A>C