ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826083271
Gene: CAV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208669
ClinVar RCV Id:
RCV000190679
RCV000191044
RCV000766129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166366.1:p.Phe129Ter
CA204643
NM_001172895.1:c.386_387del