ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825109061
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000449488
ClinVar Variation:
397587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Ala432Glu
CA16609458
NM_000296.4:c.1295C>A