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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:
PA2826283067
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8290
ClinVar RCV Id:
RCV000008787
RCV000024416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Glu47Lys
CA119449
NM_001234.5:c.139G>A