ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825173093
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947957
ClinVar RCV Id:
RCV003806779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg950Leu
CA372572505
NM_000445.4:c.2849G>T