ClinGen Allele Registry
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Canonical Allele Identifier:
CA16185507
Gene:
Linked Data
dbSNP Id:
rs11944965
gnomAD v2:
4-63424089-C-T
gnomAD v3:
4-62558371-C-T
gnomAD v4:
4-62558371-C-T
MyVariant Identifiers:
chr4:g.63424089C>T (hg19)
chr4:g.62558371C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558371C>T , CM000666.2:g.62558371C>T
GRCh38
NC_000004.11:g.63424089C>T , CM000666.1:g.63424089C>T
GRCh37
NC_000004.10:g.63106684C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938814.1:n.161-5473C>T
Search 100 bp 5'
Search 100 bp 3'