ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826283424
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180801
ClinVar RCV Id:
RCV000157841
RCV000223776
RCV001144022
RCV001850194
RCV001171083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001225.1:p.Arg148Trp
CA295950
NM_001234.5:c.442C>T