ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827500258
Gene: CAMTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2597709
ClinVar RCV Id:
RCV003410358
RCV003342805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336538.1:p.Pro414Ser
CA338126380
NM_001349609.2:c.1240C>T