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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826065145
Gene: RAB3GAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1367991
ClinVar RCV Id:
RCV001894529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165906.1:p.Glu582Lys
CA56571533
NM_001172435.2:c.1744G>A