ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828964316
Gene: LOXHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47928
ClinVar RCV Id:
RCV000041200
RCV000351477
RCV001515564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371403.1:p.Val825Met
CA142204
NM_001384474.1:c.2473G>A