ClinGen Allele Registry
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Canonical Allele Identifier:
CA2757880904
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743464T>C , CM000665.2:g.109743464T>C
GRCh38
NC_000003.11:g.109462311T>C , CM000665.1:g.109462311T>C
GRCh37
NC_000003.10:g.110945001T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63269T>C
Search 100 bp 5'
Search 100 bp 3'