Allele Registry

Canonical Allele Identifier: PA2825175403

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598514

RCV000812370

ClinVar Variation:

497045

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg3021His	CA4925119 NM_000445.4:c.9062G>A