ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580238345
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2198251
ClinVar RCV Id:
RCV002629244
RCV002629245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362840.1:p.Ser71Leu
CA3036861
NM_001375911.1:c.212C>T