ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827501124
Gene: CAMTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
872691
ClinVar RCV Id:
RCV001093302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336539.1:p.Val432del
CA1139655932
NM_001349610.1:c.1294_1296del