ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684872
Gene: LOXHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138944.1:p.Val647Phe
CA8952218
NM_001145472.3:c.1939G>T