ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA10602341
Gene: CAV3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_203123.1:p.Thr63Ser
NM_033337.3:c.187A>T
NM_033337.3:c.188C>G