ClinGen Allele Registry
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Canonical Allele Identifier:
CA43480810
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.18953470A>G , CM000664.2:g.18953470A>G
GRCh38
NC_000002.11:g.19134748A>G , CM000664.1:g.19134748A>G
GRCh37
NC_000002.10:g.18998229A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939775.1:n.555+9568A>G
Search 100 bp 5'
Search 100 bp 3'