ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA225437307
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.83110340T>G , CM000673.2:g.83110340T>G
GRCh38
NC_000011.9:g.82821382T>G , CM000673.1:g.82821382T>G
GRCh37
NC_000011.8:g.82499030T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_950365.1:n.149+6785A>C
Search 100 bp 5'
Search 100 bp 3'