ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827332621
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436106
ClinVar RCV Id:
RCV000500732
RCV002056861
RCV004023391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Leu328Val
CA10351747
NM_001330209.2:c.982C>G