ClinGen Allele Registry
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Canonical Allele Identifier:
PA284842
Gene: GNPTAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Phe625Leu
CA284841
NM_024312.5:c.1875C>G
CA6746514
NM_024312.5:c.1875C>A
CA386299524
NM_024312.5:c.1873T>C