ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826481413
Gene: SOX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414883
ClinVar Variation:
374147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001248343.1:p.Pro289Ser
CA16043468
NM_001261414.3:c.865C>T