Canonical Allele Identifier: PA2580549539
Gene: LCA5 HGNC NCBI
ClinVar RCV:
RCV002602302
ClinVar Variation:
2175311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_859065.2:p.Gly591Cys
CA364638557
NM_181714.4:c.1771G>T