ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800018
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526301
ClinVar RCV Id:
RCV000630808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Arg346Gly
CA371893255
NM_000127.3:c.1036A>G