ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078549
Gene: GLDN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861454.2:p.Leu365Phe
CA7560672
NM_181789.4:c.1093C>T