ClinGen Allele Registry
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Canonical Allele Identifier:
CA329467827
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.43755194T>C
GRCh37
chrX:g.43614441T>C
Linked Data - Sequence & Population
gnomAD v2:
X:43614441 T / C
gnomAD v3:
X:43755194 T / C
gnomAD v4:
chrX-43755194-T-C
Joint Max Group AF
0.23505564 (MID)
Genomes Max Group AF
0.23286551 (NFE)
Linked Data - NCBI & NCI
dbSNP:
3027415
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43755194T>C , CM000685.2:g.43755194T>C
GRCh38
NC_000023.10:g.43614441T>C , CM000685.1:g.43614441T>C
GRCh37
NC_000023.9:g.43499385T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'