ClinGen Allele Registry
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Canonical Allele Identifier:
CA13849854
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.91363723G>A
GRCh37
chr13:g.92015977G>A
Linked Data - Sequence & Population
gnomAD v2:
13:92015977 G / A
gnomAD v3:
13:91363723 G / A
gnomAD v4:
chr13-91363723-G-A
Joint Max Group AF
0.61931934 (SAS)
Genomes Max Group AF
0.61931934 (SAS)
Linked Data - NCBI & NCI
dbSNP:
8002779
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.91363723G>A , CM000675.2:g.91363723G>A
GRCh38
NC_000013.10:g.92015977G>A , CM000675.1:g.92015977G>A
GRCh37
NC_000013.9:g.90813978G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749962.1:n.2928G>A
Search 100 bp 5'
Search 100 bp 3'