ClinGen Allele Registry
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Canonical Allele Identifier:
CA154409030
Gene:
Linked Data
dbSNP Id:
rs13227425
gnomAD v2:
7-13554008-C-T
gnomAD v3:
7-13514383-C-T
gnomAD v4:
7-13514383-C-T
MyVariant Identifiers:
chr7:g.13554008C>T (hg19)
chr7:g.13514383C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514383C>T , CM000669.2:g.13514383C>T
GRCh38
NC_000007.13:g.13554008C>T , CM000669.1:g.13554008C>T
GRCh37
NC_000007.12:g.13520533C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745097.1:n.148-187933C>T
Search 100 bp 5'
Search 100 bp 3'