ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915969924
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
322570
ClinVar RCV Id:
RCV000263054
RCV000277617
RCV000318328
RCV000354441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121619.1:p.Leu550Pro
CA10639323
NM_001128147.3:c.1649T>C