ClinGen Allele Registry
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Canonical Allele Identifier:
CA1087465297
Gene:
Linked Data
dbSNP Id:
rs1761792990
gnomAD v3:
6-31440057-A-C
gnomAD v4:
6-31440057-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31440057A>C , CM000668.2:g.31440057A>C
GRCh38
NC_000006.11:g.31407834A>C , CM000668.1:g.31407834A>C
GRCh37
NC_000006.10:g.31515813A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.55-5T>G
Search 100 bp 5'
Search 100 bp 3'