ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA357927
Gene: SOX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224817
ClinVar RCV Id:
RCV000210408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694534.1:p.Arg598Gly
CA357926
NM_152989.3:c.1792C>G