ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212555
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
368
ClinVar RCV Id:
RCV000000398
RCV000000399
RCV002476903
RCV002496218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu357Pro
CA212552
NM_000267.3:c.1070T>C