ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825127445
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
467718
ClinVar RCV:
RCV000527707
RCV000764107
RCV001020116
RCV001574886
RCV002448634
ClinVar Variation:
457643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser1124Asn
CA8486159
NM_000267.3:c.3371G>A