ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580337800
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008871.3:p.Asp622Asn
CA384319441
NM_006940.6:c.1864G>A