ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102740
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265129
ClinVar RCV Id:
RCV000254839
RCV000630812
RCV001263553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Arg340His
CA4854266
NM_000127.3:c.1019G>A