ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499296534
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001332857
ClinVar Variation:
1031111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Lys802Arg
CA359501106
NM_133433.4:c.2405A>G