ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580482987
Gene: GNPTG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115909.1:p.Ala2Val
CA394183769
NM_032520.5:c.5C>T