ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2258509550
Gene:
Linked Data - NCBI & NCI
dbSNP:
6607284
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.37666305T>A , CM000679.2:g.37666305T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_002958135.1:n.243-17866T>A
Search 100 bp 5'
Search 100 bp 3'