ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669170
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856372
ClinVar RCV Id:
RCV001061818
RCV003467813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Ile589Val
CA371878478
NM_000127.3:c.1765A>G