ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452296
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
358104
ClinVar RCV Id:
RCV000400678
RCV001199700
RCV001553635
RCV001861293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Lys134Thr
CA3901128
NM_181714.4:c.401A>C