ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA220890
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93053
ClinVar RCV Id:
RCV000078868
RCV000544997
RCV001086335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ser1546Leu
CA220883
NM_000445.4:c.4637C>T