ClinGen Allele Registry
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Canonical Allele Identifier:
CA185688700
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126999693_126999694insG
GRCh37
chr8:g.128011938_128011939insG
Linked Data - NCBI & NCI
dbSNP:
35954555
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999697dup , CM000670.2:g.126999697dup
GRCh38
NC_000008.10:g.128011942dup , CM000670.1:g.128011942dup
GRCh37
NC_000008.9:g.128081124dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6858dup
Search 100 bp 5'
Search 100 bp 3'