ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828940482
Gene: LCA5L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2491128
ClinVar RCV Id:
RCV004280150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371224.1:p.Ala262Val
CA410288946
NM_001384295.1:c.785C>T