ClinGen Allele Registry
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Canonical Allele Identifier:
CA250293906
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.54059238G>A
GRCh37
chr13:g.54633373G>A
Linked Data - Sequence & Population
gnomAD v2:
13:54633373 G / A
gnomAD v3:
13:54059238 G / A
gnomAD v4:
chr13-54059238-G-A
Joint Max Group AF
0.30264989 (AFR)
Genomes Max Group AF
0.30264989 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9596905
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.54059238G>A , CM000675.2:g.54059238G>A
GRCh38
NC_000013.10:g.54633373G>A , CM000675.1:g.54633373G>A
GRCh37
NC_000013.9:g.53531374G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'