ClinGen Allele Registry
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Canonical Allele Identifier:
CA558630907
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28339900_28339901insTC
GRCh38
chr5:g.28339896_28339897insTC
GRCh37
chr5:g.28340007_28340008insTC
GRCh37
chr5:g.28340003_28340004insTC
Linked Data - Sequence & Population
gnomAD v2:
5:28340003 T / TTC
gnomAD v3:
5:28339896 T / TTC
gnomAD v4:
chr5-28339896-T-TTC
Joint Max Group AF
0.00001979 (NFE)
Genomes Max Group AF
0.00001979 (NFE)
Linked Data - NCBI & NCI
dbSNP:
34215922
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339913_28339914dup , CM000667.2:g.28339913_28339914dup
GRCh38
NC_000005.9:g.28340020_28340021dup , CM000667.1:g.28340020_28340021dup
GRCh37
NC_000005.8:g.28375777_28375778dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'