ClinGen Allele Registry
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Canonical Allele Identifier:
CA3206688018
Community Standard Title: NC_000014.9:g.98203821A>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.98203821A>G , CM000676.2:g.98203821A>G
GRCh38
NC_000014.8:g.98670158A>G , CM000676.1:g.98670158A>G
GRCh37
NC_000014.7:g.97739911A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001750875.1:n.1120-654T>C
Search 100 bp 5'
Search 100 bp 3'