ClinGen Allele Registry
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Canonical Allele Identifier:
PA658682224
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
467630
ClinVar RCV:
RCV000556992
RCV001091259
ClinVar Variation:
457588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Ala846Asp
CA398984227
NM_001042492.3:c.2537C>A