ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478134
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
361658
ClinVar RCV Id:
RCV000307037
RCV000827733
RCV003153565
RCV003422357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Val356Ile
CA4854241
NM_000127.3:c.1066G>A