ClinGen Allele Registry
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Canonical Allele Identifier:
CA620931001
Gene:
Linked Data
dbSNP Id:
rs1182902933
gnomAD v2:
16-9343418-G-A
gnomAD v3:
16-9249561-G-A
gnomAD v4:
16-9249561-G-A
MyVariant Identifiers:
chr16:g.9343418G>A (hg19)
chr16:g.9249561G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249561G>A , CM000678.2:g.9249561G>A
GRCh38
NC_000016.9:g.9343418G>A , CM000678.1:g.9343418G>A
GRCh37
NC_000016.8:g.9250919G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64828G>A
Search 100 bp 5'
Search 100 bp 3'