ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830008971
Gene: PNKD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_072094.1:p.Arg296Gln
CA2104161
NM_022572.4:c.887G>A