ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3071892986
Gene: NIPBL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Ala2116Val
CA359503957
NM_015384.5:c.6347C>T