ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018192
Gene: NHS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198292
ClinVar RCV Id:
RCV000179569
RCV002399640
RCV001520145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278796.1:p.Val535Met
CA246849
NM_001291867.2:c.1603G>A