ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113335
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39061
ClinVar RCV Id:
RCV000032326
RCV001852649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.His956Tyr
CA343383
NM_024312.5:c.2866C>T