ClinGen Allele Registry
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Canonical Allele Identifier:
CA694637170
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.105545995C>A
GRCh37
chr13:g.106198344C>A
Linked Data - Sequence & Population
gnomAD v3:
13:105545995 C / A
gnomAD v4:
chr13-105545995-C-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1055762034
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545995C>A , CM000675.2:g.105545995C>A
GRCh38
NC_000013.10:g.106198344C>A , CM000675.1:g.106198344C>A
GRCh37
NC_000013.9:g.104996345C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'