ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645478135
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429353
ClinVar RCV Id:
RCV000494520
RCV001856960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Pro357Arg
CA371892714
NM_000127.3:c.1070C>G