ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA571116582
Gene:
Linked Data
dbSNP Id:
rs1294974888
gnomAD v2:
6-151954923-G-T
gnomAD v3:
6-151633788-G-T
gnomAD v4:
6-151633788-G-T
MyVariant Identifiers:
chr6:g.151954923G>T (hg19)
chr6:g.151633788G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633788G>T , CM000668.2:g.151633788G>T
GRCh38
NC_000006.11:g.151954923G>T , CM000668.1:g.151954923G>T
GRCh37
NC_000006.10:g.151996616G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3806G>T
Search 100 bp 5'
Search 100 bp 3'