ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827708406
Gene: GOSR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2294663
ClinVar RCV Id:
RCV002860121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340043.1:p.Ser174Phe
CA400019003
NM_001353114.2:c.521C>T