ClinGen Allele Registry
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Canonical Allele Identifier:
CA174344473
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.24186788C>A
GRCh37
chr8:g.24044301C>A
Linked Data - Sequence & Population
gnomAD v3:
8:24186788 C / A
gnomAD v4:
chr8-24186788-C-A
Linked Data - NCBI & NCI
dbSNP:
11777116
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.24186788C>A , CM000670.2:g.24186788C>A
GRCh38
NC_000008.10:g.24044301C>A , CM000670.1:g.24044301C>A
GRCh37
NC_000008.9:g.24100246C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745844.1:n.139-18744C>A
Search 100 bp 5'
Search 100 bp 3'