ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742002217
Gene: GOSR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473363.1:p.Cys18Phe
CA291196286
NM_054022.4:c.53G>T