ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA220944
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93069
ClinVar RCV Id:
RCV000078884
RCV000554019
RCV002514388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala2004Val
CA220937
NM_000445.4:c.6011C>T