ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335714
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216405
ClinVar RCV Id:
RCV000195487
RCV000213390
RCV000679395
RCV000764113
RCV003165467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Thr1568Met
CA335711
NM_000267.3:c.4703C>T