ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573095644
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326673
ClinVar RCV Id:
RCV001786853
RCV002541250
RCV004040827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Ser1089Cys
CA6746206
NM_024312.5:c.3265A>T