ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139681315
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401619
ClinVar RCV:
RCV000469747
ClinVar Variation:
404528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.Val253del
CA16615147
NM_001128147.3:c.758_760del