ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102849
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11011
ClinVar RCV Id:
RCV000011758
RCV000083441
ClinVar Variation Id:
97204
ClinVar RCV Id:
RCV000083442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Leu148Phe
CA224612
NM_000531.6:c.444G>C
CA224613
NM_000531.6:c.444G>T