ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092212
Gene: SC5D
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
22395
ClinVar RCV:
RCV000007781
ClinVar Variation:
7356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020127.1:p.Tyr46Ser
CA118738
NM_001024956.3:c.137A>C