ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3268069088
Gene: PKHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Arg328Gly
CA364428970
NM_170724.3:c.982C>G