ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580525459
Gene: NANP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004203237
ClinVar Variation:
2360380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689880.1:p.Ile47Leu
CA9798400
NM_152667.3:c.139A>C