ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580150457
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1890229
ClinVar RCV:
RCV003079705
ClinVar Variation:
2157924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.Ile177Lys
CA398985102
NM_001128147.3:c.530T>A