ClinGen Allele Registry
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Canonical Allele Identifier:
PA223858
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000157842
RCV000723725
RCV001082889
RCV001145924
RCV001171084
RCV002326800
RCV003952529
ClinVar Variation:
96240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Arg148Gln
CA223856
NM_033337.3:c.443G>A