ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA292183998
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.54470764A>G , CM000679.2:g.54470764A>G
GRCh38
NC_000017.10:g.52548125A>G , CM000679.1:g.52548125A>G
GRCh37
NC_000017.9:g.49903124A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934865.1:n.135-82190T>C
Search 100 bp 5'
Search 100 bp 3'