ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202115
Gene: LOXHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653213.6:p.Thr1383Arg
CA202114
NM_144612.7:c.4148C>G