ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825127649
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000544954
RCV001535486
RCV001571922
RCV003159753
ClinVar Variation:
457654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Val1182Phe
CA398989966
NM_000267.3:c.3544G>T