ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580500771
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806325
ClinVar RCV Id:
RCV002470609
RCV003479430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Asp3439Tyr
CA364436426
NM_138694.3:c.10315G>T