ClinGen Allele Registry
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Canonical Allele Identifier:
CA98367548
Gene:
Linked Data
dbSNP Id:
rs1042571907
gnomAD v3:
4-62558104-T-C
gnomAD v4:
4-62558104-T-C
MyVariant Identifiers:
chr4:g.63423822T>C (hg19)
chr4:g.62558104T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558104T>C , CM000666.2:g.62558104T>C
GRCh38
NC_000004.11:g.63423822T>C , CM000666.1:g.63423822T>C
GRCh37
NC_000004.10:g.63106417T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5740T>C
Search 100 bp 5'
Search 100 bp 3'