ClinGen Allele Registry
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Canonical Allele Identifier:
CA308543686
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.41648308T>C
Linked Data - Sequence & Population
gnomAD v3:
19:41648308 T / C
gnomAD v4:
chr19-41648308-T-C
Joint Max Group AF
0.5812436 (AMR)
Genomes Max Group AF
0.5812436 (AMR)
Linked Data - NCBI & NCI
dbSNP:
2109075
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41648308T>C , CM000681.2:g.41648308T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_935972.1:n.170+3194A>G
Search 100 bp 5'
Search 100 bp 3'