ClinGen Allele Registry
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Canonical Allele Identifier:
PA119445
Gene: CAV3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_203123.1:p.Phe97del
NM_033337.3:c.290_292del
NM_033337.3:c.[290_292del;294C=]
NM_033337.3:c.[290_292del;294C>T]