ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826083923
Gene: LOXHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166600.1:p.Val393Ile
CA8952042
NM_001173129.2:c.1177G>A