ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830494149
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471534
ClinVar RCV Id:
RCV001087492
RCV000596978
RCV004538038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala4229Thr
CA4923981
NM_201381.3:c.12685G>A