ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341815
Gene: NSDHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21265
ClinVar RCV Id:
RCV000020427
RCV002514124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123237.1:p.Tyr349Cys
CA341814
NM_001129765.2:c.1046A>G