ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483099
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Pro48Arg
CA16611375
NM_033337.3:c.143C>G