ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825131659
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000434601
ClinVar Variation:
379330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Tyr1927Asp
CA16607562
NM_000267.3:c.5779T>G