ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830319050
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2794295
ClinVar RCV Id:
RCV003672750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689834.1:p.Gly228Ser
CA3036834
NM_152621.6:c.682G>A