ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825110630
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812023
ClinVar RCV Id:
RCV001002583
RCV003953428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Thr2447Met
CA7831174
NM_000296.4:c.7340C>T