ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668955
Gene: EXT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Leu427Pro
CA371890082
NM_000127.3:c.1280T>C