ClinGen Allele Registry
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Canonical Allele Identifier:
PA645416566
Gene: CAVIN4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018126.1:p.Leu248_Arg254del
CA5160140
NM_001018116.2:c.714_734del
CA5160143
NM_001018116.2:c.742_762del