ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387630
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_001035957.1:p.Tyr1948Asp
CA16607562
NM_001042492.3:c.5842T>G