ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827708379
Gene: GOSR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205630
ClinVar RCV Id:
RCV000187615
RCV001408579
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340043.1:p.Leu129Phe
CA314901
NM_001353114.2:c.385C>T