ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA136859044
Gene:
Linked Data
dbSNP Id:
rs1015774004
gnomAD v2:
6-31407768-A-G
gnomAD v3:
6-31439991-A-G
gnomAD v4:
6-31439991-A-G
MyVariant Identifiers:
chr6:g.31407768A>G (hg19)
chr6:g.31439991A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439991A>G , CM000668.2:g.31439991A>G
GRCh38
NC_000006.11:g.31407768A>G , CM000668.1:g.31407768A>G
GRCh37
NC_000006.10:g.31515747A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.116T>C
Search 100 bp 5'
Search 100 bp 3'