ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801988
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
531123
ClinVar RCV:
RCV000632279
RCV001821789
RCV002420689
RCV002483787
ClinVar Variation:
527419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Gly2512Ser
CA8487606
NM_001042492.3:c.7534G>A