ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142190
Gene: LOXHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47920
ClinVar RCV Id:
RCV000041192
RCV000666124
RCV000969104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653213.6:p.Val581Ala
CA142189
NM_144612.7:c.1742T>C