ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191735
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184603
ClinVar RCV:
RCV000164772
RCV000475700
RCV000681003
RCV001027838
RCV003224179
ClinVar Variation:
185364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser858Cys
CA191732
NM_000267.3:c.2573C>G