ClinGen Allele Registry
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Canonical Allele Identifier:
CA786414644
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122589875T>C
GRCh37
chr4:g.123511030T>C
Linked Data - Sequence & Population
gnomAD v2:
4:123511030 T / C
gnomAD v3:
4:122589875 T / C
gnomAD v4:
chr4-122589875-T-C
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1399037884
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122589875T>C , CM000666.2:g.122589875T>C
GRCh38
NC_000004.11:g.123511030T>C , CM000666.1:g.123511030T>C
GRCh37
NC_000004.10:g.123730480T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'