ClinGen Allele Registry
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Canonical Allele Identifier:
CA163625048
Gene:
Linked Data
dbSNP Id:
rs753160498
gnomAD v3:
7-97388534-A-C
gnomAD v4:
7-97388534-A-C
MyVariant Identifiers:
chr7:g.97017846A>C (hg19)
chr7:g.97388534A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388534A>C , CM000669.2:g.97388534A>C
GRCh38
NC_000007.13:g.97017846A>C , CM000669.1:g.97017846A>C
GRCh37
NC_000007.12:g.96855782A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59887T>G
Search 100 bp 5'
Search 100 bp 3'