ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827500055
Gene: CAMTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422940
ClinVar RCV Id:
RCV000478245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336538.1:p.Arg73Cys
CA16617182
NM_001349609.2:c.217C>T