Allele Registry

Canonical Allele Identifier: PA2825174935

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598086

RCV002530953

ClinVar Variation:

497000

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg2558His	CA4925572 NM_000445.4:c.7673G>A