ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020628
Gene: LOXHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001294942.1:p.Val947Ile
CA8952042
NM_001308013.2:c.2839G>A