ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827332459
Gene: OFD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000201699
ClinVar Variation:
217685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Val93Phe
CA279491
NM_001330209.2:c.277G>T