ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827332709
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532266
ClinVar RCV Id:
RCV000638946
RCV002483822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Glu450Lys
CA412343079
NM_001330209.2:c.1348G>A