ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1087465226
Gene:
Linked Data
dbSNP Id:
rs1761779011
gnomAD v3:
6-31439778-G-A
gnomAD v4:
6-31439778-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439778G>A , CM000668.2:g.31439778G>A
GRCh38
NC_000006.11:g.31407555G>A , CM000668.1:g.31407555G>A
GRCh37
NC_000006.10:g.31515534G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.329C>T
Search 100 bp 5'
Search 100 bp 3'