ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573240677
Gene: SPTLC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393703
ClinVar RCV Id:
RCV001927210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004854.1:p.Thr523Pro
CA390699763
NM_004863.4:c.1567A>C