ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580210318
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2064175
ClinVar RCV Id:
RCV002943266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339851.1:p.Thr241Ala
CA401361232
NM_001352922.2:c.721A>G