ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA103221
Gene: OTC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
103001
ClinVar RCV:
RCV000083336
RCV001813756
ClinVar Variation:
97109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Thr44Ile
CA224459
NM_000531.6:c.131C>T