ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825313611
Gene: PHF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438300
ClinVar RCV Id:
RCV000505186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001015877.1:p.Thr255del
CA645509233
NM_001015877.2:c.763_765del