ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390897
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306793
ClinVar RCV Id:
RCV000298245
RCV000891973
RCV000403989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Arg1237Gln
CA6746055
NM_024312.5:c.3710G>A