ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3071906204
Gene: NIPBL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Pro430Ala
CA359486313
NM_015384.5:c.1288C>G