ClinGen Allele Registry
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Canonical Allele Identifier:
CA803817773
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.130681594T>A
GRCh37
chr5:g.130017287T>A
Linked Data - Sequence & Population
gnomAD v3:
5:130681594 T / A
gnomAD v4:
chr5-130681594-T-A
Linked Data - NCBI & NCI
dbSNP:
4836519
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.130681594T>A , CM000667.2:g.130681594T>A
GRCh38
NC_000005.9:g.130017287T>A , CM000667.1:g.130017287T>A
GRCh37
NC_000005.8:g.130045186T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'