ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580549501
Gene: LCA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.His164Arg
CA3901111
NM_181714.4:c.491A>G