ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682214
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484027
ClinVar RCV Id:
RCV000691531
RCV001127934
RCV001127932
RCV001127933
RCV003228960
RCV002317187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Asn793Thr
CA8485967
NM_001042492.3:c.2378A>C