ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478125
Gene: EXT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
259894
ClinVar RCV:
RCV000255528
RCV001859476
ClinVar Variation:
265126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Gly268Glu
CA10588451
NM_000127.3:c.803G>A