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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:
PA2826283138
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1062784
ClinVar RCV Id:
RCV001372540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Val67Ile
CA351663277
NM_001234.5:c.199G>A