ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018240
Gene: NHS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129778
ClinVar RCV Id:
RCV000117794
RCV002528221
RCV002390267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278797.1:p.Leu79Val
CA231333
NM_001291868.2:c.235C>G