ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827500246
Gene: CAMTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
806020
ClinVar RCV Id:
RCV000993869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336538.1:p.Glu403Gln
CA338126168
NM_001349609.2:c.1207G>C