ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510616
Gene: EXT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000118.2:p.Tyr284Ter
NM_000127.3:c.852T>A
NM_000127.3:c.852T>G