ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA103301
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97101
ClinVar RCV Id:
RCV000083326
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Tyr345Cys
CA224445
NM_000531.6:c.1034A>G