ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573098521
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1337519
ClinVar RCV Id:
RCV001820533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Pro606Leu
CA117043675
NM_133433.4:c.1817C>T