ClinGen Allele Registry
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Canonical Allele Identifier:
CA247382600
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.30765980G>A
GRCh37
chr13:g.31340117G>A
Linked Data - Sequence & Population
gnomAD v2:
13:31340117 G / A
gnomAD v3:
13:30765980 G / A
gnomAD v4:
chr13-30765980-G-A
Joint Max Group AF
0.08640924 (NFE)
Genomes Max Group AF
0.08640924 (NFE)
Linked Data - NCBI & NCI
dbSNP:
17222842
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.30765980G>A , CM000675.2:g.30765980G>A
GRCh38
NC_000013.10:g.31340117G>A , CM000675.1:g.31340117G>A
GRCh37
NC_000013.9:g.30238117G>A
NCBI36
NG_011963.2:g.57503G>A
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