ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915955552
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000989464
RCV001528470
ClinVar Variation:
803171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Arg739Gln
CA7833257
NM_001009944.3:c.2216G>A