ClinGen Allele Registry
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Canonical Allele Identifier:
PA113388
Gene: GNPTAB
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_077288.2:p.Phe374Leu
NM_024312.5:c.1120T>C
NM_024312.5:c.1122T>A
NM_024312.5:c.1122T>G