ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452368
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
358099
ClinVar RCV Id:
RCV000393430
RCV000946289
RCV001272073
RCV002524508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Leu366Ser
CA3900944
NM_181714.4:c.1097T>C