ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827499577
Gene: CAMTA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336537.1:p.Ser638Tyr
CA338131942
NM_001349608.2:c.1913C>A