ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675200
Gene: EXT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456065
ClinVar RCV Id:
RCV000531791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Ala331Asp
CA371893338
NM_000127.3:c.992C>A