ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314900
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_473363.1:p.Arg50Cys
CA314898
NM_054022.4:c.148C>T