Allele Registry

Canonical Allele Identifier: PA248277

Gene: LCA5 HGNC NCBI

ClinVar Allele:

196354

ClinVar RCV:

RCV000180711

RCV001272068

RCV001335589

ClinVar Variation:

199195

HGVS (amino-acid)	Matching Registered Transcripts
NP_859065.2:p.Asp676Tyr	CA248276 NM_181714.4:c.2026G>T