ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA989591499
Gene:
Linked Data
dbSNP Id:
rs1910119989
gnomAD v3:
18-41477794-A-T
gnomAD v4:
18-41477794-A-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.41477794A>T , CM000680.2:g.41477794A>T
GRCh38
NC_000018.9:g.39057758A>T , CM000680.1:g.39057758A>T
GRCh37
NC_000018.8:g.37311756A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935409.1:n.86-26340A>T
Search 100 bp 5'
Search 100 bp 3'