ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658807949
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501330
ClinVar RCV Id:
RCV000592739
RCV002483640
RCV002532582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.His3647Pro
CA3850985
NM_138694.3:c.10940A>C