×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA144796
Gene: PRIMPOL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65424
ClinVar RCV Id:
RCV000055646
RCV002247451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689896.1:p.Tyr89Asp
CA144795
NM_152683.4:c.265T>G