ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645427490
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_003602.1:p.Leu368Val
CA10351747
NM_003611.3:c.1102C>G