ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825312228
Gene: GOSR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205627
ClinVar RCV Id:
RCV000187612
RCV000307040
RCV002317105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001012529.1:p.Glu14Lys
CA314894
NM_001012511.3:c.40G>A