ClinGen Allele Registry
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Canonical Allele Identifier:
PA645383888
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
327958
ClinVar RCV:
RCV000263054
RCV000277617
RCV000318328
RCV000354441
ClinVar Variation:
322570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Leu550Pro
CA10639323
NM_001042492.3:c.1649T>C