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Canonical Allele Identifier:
CA324677417
Gene: CYP2D6
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr22:g.42132561C>T
Linked Data - Sequence & Population
gnomAD v3:
22:42132561 C / T
gnomAD v4:
chr22-42132561-C-T
Joint Max Group AF
0.3798061 (MID)
Genomes Max Group AF
0.36860931 (SAS)
Exomes Max Group AF
0.21923389 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1080983
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.42132561C>T , CM000684.2:g.42132561C>T
GRCh38
NG_008376.3:g.2431G>A
NG_008376.4:g.3250G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000417586.1:n.19C>T
XM_011529967.1:c.-1045-725G>A
XP_011528269.1:n.-1045-725G>A
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