ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825126261
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000691531
RCV001127932
RCV001127933
RCV001127934
RCV002317187
RCV003228960
ClinVar Variation:
484027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Asn793Thr
CA8485967
NM_000267.3:c.2378A>C