ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA308699
Gene: PKP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000455365
RCV000772019
RCV000822207
RCV000994892
RCV002345645
RCV003996829
ClinVar Variation:
201974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ser183Asn
CA012382
NM_004572.4:c.548G>A