ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139668927
Gene: EXT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Arg346Ile
CA371893251
NM_000127.3:c.1037G>T