ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645491286
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374966
ClinVar RCV Id:
RCV000415701
RCV000618843
RCV000599924
RCV000777608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Pro717Leu
CA033159
NM_004572.4:c.2150C>T