ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139719208
Gene: CAVIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917427
ClinVar RCV Id:
RCV001174404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036364.2:p.Asp349del
CA8575758
NM_012232.6:c.1047_1049del