ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827282588
Gene: CACNB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188485
ClinVar RCV:
RCV000170872
RCV000618110
RCV001085407
RCV002281992
ClinVar Variation:
190729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316989.1:p.Arg438His
CA301858
NM_001330060.2:c.1313G>A