ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018186
Gene: NHS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208770
ClinVar RCV Id:
RCV000190792
RCV000594957
RCV002514089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278796.1:p.Arg392Gln
CA204863
NM_001291867.2:c.1175G>A