ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA15481670
Gene:
Linked Data
dbSNP Id:
rs12202969
gnomAD v2:
6-98576223-G-A
gnomAD v3:
6-98128347-G-A
gnomAD v4:
6-98128347-G-A
MyVariant Identifiers:
chr6:g.98576223G>A (hg19)
chr6:g.98128347G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98128347G>A , CM000668.2:g.98128347G>A
GRCh38
NC_000006.11:g.98576223G>A , CM000668.1:g.98576223G>A
GRCh37
NC_000006.10:g.98682944G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942809.1:n.456+29077G>A
Search 100 bp 5'
Search 100 bp 3'