ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828940318
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_001371218.1:p.Ala392Val
CA410288946
NM_001384289.1:c.1175C>T