ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916059081
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215967
ClinVar RCV Id:
RCV000197522
RCV003133173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Arg909Gln
CA337273
NM_170724.3:c.2726G>A