ClinGen Allele Registry
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Canonical Allele Identifier:
PA095973
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15375
ClinVar RCV:
RCV000000364
RCV000489593
RCV000626644
RCV000762990
RCV002305424
RCV002310992
RCV003460397
ClinVar Variation:
336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Lys1444Glu
CA251440
NM_001042492.3:c.4330A>G