ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA295946
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180799
ClinVar RCV Id:
RCV000157839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Ser96Cys
CA295944
NM_033337.3:c.287C>G