ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA343408
Gene: GNPTAB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_077288.2:p.Ser15Tyr
NM_024312.5:c.44C>A