ClinGen Allele Registry
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Canonical Allele Identifier:
CA725798440
Gene:
Linked Data
dbSNP Id:
rs1364516180
gnomAD v3:
16-9249473-C-G
gnomAD v4:
16-9249473-C-G
MyVariant Identifiers:
chr16:g.9343330C>G (hg19)
chr16:g.9249473C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249473C>G , CM000678.2:g.9249473C>G
GRCh38
NC_000016.9:g.9343330C>G , CM000678.1:g.9343330C>G
GRCh37
NC_000016.8:g.9250831C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64740C>G
Search 100 bp 5'
Search 100 bp 3'