ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246762
Gene: NSDHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159452
ClinVar RCV Id:
RCV000146963
RCV000179494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123237.1:p.Arg199Cys
CA246761
NM_001129765.2:c.595C>T