ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276665
Gene: CAVIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1162815
ClinVar RCV Id:
RCV001507381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036364.2:p.Asp368Asn
CA8575749
NM_012232.6:c.1102G>A