ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829550340
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3224317
ClinVar RCV Id:
RCV004519043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Leu518Val
CA235249167
NM_004572.4:c.1552C>G