ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098918
Gene: PRPF31
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4359
ClinVar RCV Id:
RCV000004607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056444.3:p.Ala216Pro
CA253133
NM_015629.4:c.646G>C