ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826104118
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000240888
RCV000255263
RCV000623106
RCV000763034
RCV001380078
RCV001814128
RCV002227102
RCV002274954
ClinVar Variation:
254268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ala713Thr
CA10586394
NM_001174080.2:c.2137G>A