ClinGen Allele Registry
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Canonical Allele Identifier:
CA706469857
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.48903598A>G , CM000676.2:g.48903598A>G
GRCh38
NC_000014.8:g.49372801A>G , CM000676.1:g.49372801A>G
GRCh37
NC_000014.7:g.48442551A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001750756.1:n.504+94634T>C
Search 100 bp 5'
Search 100 bp 3'