Allele Registry

Canonical Allele Identifier: PA2825175328

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000595740

RCV001853999

ClinVar Variation:

497155

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Ala2939Val	CA187611776 NM_000445.4:c.8816C>T