ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658807602
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528300
ClinVar RCV Id:
RCV000633432
RCV001569911
RCV003432661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Leu8Pro
CA3854076
NM_138694.3:c.23T>C