Canonical Allele Identifier: PA1139668930
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957776
ClinVar RCV Id: RCV001230822 RCV003886492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Gln352His
CA371893199
NM_000127.3:c.1056G>T
CA371893203
NM_000127.3:c.1056G>C