ClinGen Allele Registry
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Canonical Allele Identifier:
CA130486350
Gene:
Linked Data - Expert Curation
COSMIC:
COSN20430538 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.155414920G>C
GRCh37
chr5:g.154794480G>C
Linked Data - Sequence & Population
gnomAD v2:
5:154794480 G / C
gnomAD v3:
5:155414920 G / C
gnomAD v4:
chr5-155414920-G-C
Joint Max Group AF
0.7369178 (AFR)
Genomes Max Group AF
0.7369178 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4958803
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.155414920G>C , CM000667.2:g.155414920G>C
GRCh38
NC_000005.9:g.154794480G>C , CM000667.1:g.154794480G>C
GRCh37
NC_000005.8:g.154774673G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'