ClinGen Allele Registry
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Canonical Allele Identifier:
PA916030180
Gene: CAMTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421997
ClinVar RCV Id:
RCV000478393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336542.1:p.Arg691Cys
CA567288
NM_001349613.1:c.2071C>T