ClinGen Allele Registry
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Canonical Allele Identifier:
CA100019314
Gene:
Linked Data
dbSNP Id:
rs16850360
gnomAD v2:
4-74872445-A-G
gnomAD v3:
4-74006728-A-G
gnomAD v4:
4-74006728-A-G
MyVariant Identifiers:
chr4:g.74872445A>G (hg19)
chr4:g.74006728A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74006728A>G , CM000666.2:g.74006728A>G
GRCh38
NC_000004.11:g.74872445A>G , CM000666.1:g.74872445A>G
GRCh37
NC_000004.10:g.75091309A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938874.1:n.450-167A>G
Search 100 bp 5'
Search 100 bp 3'