ClinGen Allele Registry
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Canonical Allele Identifier:
CA185688680
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126999602C>G
GRCh37
chr8:g.128011847C>G
Linked Data - Sequence & Population
gnomAD v2:
8:128011847 C / G
gnomAD v3:
8:126999602 C / G
gnomAD v4:
chr8-126999602-C-G
Linked Data - NCBI & NCI
dbSNP:
780834682
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999602C>G , CM000670.2:g.126999602C>G
GRCh38
NC_000008.10:g.128011847C>G , CM000670.1:g.128011847C>G
GRCh37
NC_000008.9:g.128081029C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6953C>G
Search 100 bp 5'
Search 100 bp 3'