ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825260137
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3069781
ClinVar RCV Id:
RCV004009813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Lys472Gln
CA384368035
NM_001005242.3:c.1414A>C