ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030179
Gene: CAMTA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001336542.1:p.Arg684Ter
NM_001349613.1:c.2050C>T