ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247832
Gene: NHS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198926
ClinVar RCV Id:
RCV000180386
RCV001331999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938011.1:p.Thr1574Pro
CA247831
NM_198270.4:c.4720A>C