ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915960448
Gene: NF1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000821069
ClinVar Variation:
663229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Tyr1948His
CA399010617
NM_001042492.3:c.5842T>C