ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA349157
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220267
ClinVar RCV Id:
RCV000204972
RCV000572733
RCV000681296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035957.1:p.Met1035Val
CA349155
NM_001042492.3:c.3103A>G