ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078393
Gene: LCA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Pro548Ser
CA3900794
NM_181714.4:c.1642C>T