ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825270039
Gene: CACNA1H
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003143933
ClinVar Variation:
2439682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005407.1:p.Pro684Arg
CA7800094
NM_001005407.2:c.2051C>G