ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206630
Gene: RAB3GAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211978
ClinVar RCV Id:
RCV000193269
RCV000224002
RCV000280127
RCV001849339
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165906.1:p.Arg336Cys
CA206629
NM_001172435.2:c.1006C>T