ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418291
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414938
RCV000457496
RCV000492226
RCV000626641
RCV000992429
RCV003470366
ClinVar Variation:
374108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.Tyr575Cys
CA16043521
NM_001128147.3:c.1724A>G