ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079290038
Gene: GNPTAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Phe374Ile
CA386302882
NM_024312.5:c.1120T>A