ClinGen Allele Registry
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Canonical Allele Identifier:
PA355042
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
222633
ClinVar RCV:
RCV000203720
RCV000571589
RCV000681043
RCV000764115
RCV002317738
ClinVar Variation:
220184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Arg2431Cys
CA348018
NM_000267.3:c.7291C>T