ClinGen Allele Registry
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Canonical Allele Identifier:
CA459509508
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh37
chr8:g.9183596A>T
Linked Data - Sequence & Population
gnomAD v4:
chr8-9326086-A-T
Linked Data - NCBI & NCI
dbSNP:
4841132
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.9326086A>T , CM000670.2:g.9326086A>T
GRCh38
NC_000008.10:g.9183596A>T , CM000670.1:g.9183596A>T
GRCh37
NC_000008.9:g.9221006A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040039.1:n.548A>T
Search 100 bp 5'
Search 100 bp 3'