ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314903
Gene: GOSR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205630
ClinVar RCV Id:
RCV000187615
RCV001408579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473363.1:p.Leu130Phe
CA314901
NM_054022.4:c.388C>T