ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827708496
Gene: GOSR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205629
ClinVar RCV Id:
RCV000364005
RCV000858536
RCV002390493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340044.1:p.Arg49Cys
CA314898
NM_001353115.2:c.145C>T