ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139721938
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923173
ClinVar RCV Id:
RCV001183660
RCV001210852
RCV001556392
RCV004008397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ala830Pro
CA035342
NM_004572.4:c.2488G>C