ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891844942
Gene: EXT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Leu191Ser
CA371915543
NM_000127.3:c.572T>C