ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314902
Gene: GOSR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004278.2:p.Leu130Phe
CA314901
NM_004287.5:c.388C>T