ClinGen Allele Registry
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Canonical Allele Identifier:
PA251443
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_000258.1:p.Lys1423Glu
CA251440
NM_000267.3:c.4267A>G