ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478140
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387595
ClinVar RCV Id:
RCV000432157
RCV001214391
RCV002522378
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Leu427Val
CA4854193
NM_000127.3:c.1279C>G