ClinGen Allele Registry
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Canonical Allele Identifier:
CA315632273
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.46007357C>T
GRCh37
chr20:g.44635996C>T
Linked Data - Sequence & Population
gnomAD v2:
20:44635996 C / T
gnomAD v3:
20:46007357 C / T
gnomAD v4:
chr20-46007357-C-T
Joint Max Group AF
0.00082419 (SAS)
Genomes Max Group AF
0.00082419 (SAS)
Linked Data - NCBI & NCI
dbSNP:
545482128
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007357C>T , CM000682.2:g.46007357C>T
GRCh38
NC_000020.10:g.44635996C>T , CM000682.1:g.44635996C>T
GRCh37
NC_000020.9:g.44069403C>T
NCBI36
NG_011468.1:g.3450C>T
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