ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913199356
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.2:p.Gly960Asp
CA394385763
NM_001009944.2:c.2879G>A