ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338367
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216404
ClinVar RCV Id:
RCV000199054
RCV000563776
RCV001577944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser1540Asn
CA338364
NM_000267.3:c.4619G>A