ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573095642
Gene: GNPTAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Arg986Pro
CA6746286
NM_024312.5:c.2957G>C