ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830527238
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
998352
ClinVar RCV Id:
RCV001294174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Arg325Trp
CA5955065
NM_207122.2:c.973C>T