ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830143726
Gene: CATSPER1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444282.3:p.Ala599Thr
CA6114546
NM_053054.4:c.1795G>A