ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386651
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
235675
ClinVar RCV:
RCV000220527
RCV000531590
RCV001589161
RCV002494600
RCV003463603
RCV004547563
ClinVar Variation:
234185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ser1352Thr
CA10580306
NM_001042492.3:c.4055G>C