ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA161038
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134884
ClinVar RCV Id:
RCV000121632
RCV000213205
RCV001854661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ser858Pro
CA161035
NM_000267.3:c.2572T>C