ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828635500
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1224412
ClinVar RCV Id:
RCV001597479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362836.1:p.Tyr56Phe
CA357835061
NM_001375907.1:c.167A>T