ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829821577
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2868505
ClinVar RCV Id:
RCV003602650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Pro606Ser
CA359494988
NM_015384.5:c.1816C>T