ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573089131
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333349
ClinVar RCV Id:
RCV001808037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Leu219Ser
CA383030195
NM_006918.5:c.656T>C