ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2594587436
Gene:
Linked Data
dbSNP Id:
rs2113875510
gnomAD v3:
6-31439780-A-G
gnomAD v4:
6-31439780-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439780A>G , CM000668.2:g.31439780A>G
GRCh38
NC_000006.11:g.31407557A>G , CM000668.1:g.31407557A>G
GRCh37
NC_000006.10:g.31515536A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.327T>C
Search 100 bp 5'
Search 100 bp 3'