ClinGen Allele Registry
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Canonical Allele Identifier:
CA815905397
Community Standard Title: NC_000005.10:g.96389909C>G
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.96389909C>G , CM000667.2:g.96389909C>G
GRCh38
NC_000005.9:g.95725613C>G , CM000667.1:g.95725613C>G
GRCh37
NC_000005.8:g.95751369C>G
NCBI36
NG_021161.1:g.48373G>C
Transcript Alleles
HGVS
Amino-acid Change
NR_130776.1:n.354+10257C>G
Search 100 bp 5'
Search 100 bp 3'