ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916058994
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167492
ClinVar RCV Id:
RCV000153721
RCV000765890
RCV001331698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Asn727Ser
CA234578
NM_170724.3:c.2180A>G