ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669201
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987979
ClinVar RCV Id:
RCV001269357
RCV002541642
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Arg605Gln
CA371878203
NM_000127.3:c.1814G>A