ClinGen Allele Registry
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Canonical Allele Identifier:
CA12374494
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98124244T>C , CM000668.2:g.98124244T>C
GRCh38
NC_000006.11:g.98572120T>C , CM000668.1:g.98572120T>C
GRCh37
NC_000006.10:g.98678841T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942809.1:n.456+24974T>C
Search 100 bp 5'
Search 100 bp 3'