ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3071703182
Gene: NIPBL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Ala427Gly
CA359486267
NM_015384.5:c.1280C>G