ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478119
Gene: EXT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000268096
RCV002058697
ClinVar Variation:
361662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000118.2:p.Ser50Gly
CA4854410
NM_000127.3:c.148A>G