Canonical Allele Identifier: PA1139681315
Gene: NF1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121619.1:p.Val253del
CA16615147
NM_001128147.3:c.758_760del