ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA159103
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134201
ClinVar RCV Id:
RCV000120874
RCV002515864
RCV003905151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Pro477Arg
CA159101
NM_000127.3:c.1430C>G