ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827349923
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_001317714.1:p.Arg576Gly
CA357926
NM_001330785.2:c.1726C>G