ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA217129
Gene: GFAP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056841
RCV000192178
ClinVar Variation:
66447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002046.1:p.Thr383Ile
CA217128
NM_002055.5:c.1148C>T