×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825248274
Gene: CACNA1E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521483
ClinVar RCV Id:
RCV000624563
RCV000754084
RCV001269715
RCV001756024
RCV001849415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000712.2:p.Ala702Thr
CA33822752
NM_000721.4:c.2104G>A