ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018197
Gene: NHS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117787
RCV003621503
ClinVar Variation:
129772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278796.1:p.Val683Met
CA231331
NM_001291867.2:c.2047G>A