ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915957946
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657060
ClinVar RCV Id:
RCV000813609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Cys355Arg
CA371892785
NM_000127.3:c.1063T>C