Allele Registry

Canonical Allele Identifier: PA2825174315

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000556675

RCV001539647

ClinVar Variation:

471622

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Lys2042Asn	CA4926128 NM_000445.4:c.6126A>T CA372539537 NM_000445.4:c.6126A>C