ClinGen Allele Registry
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Canonical Allele Identifier:
CA551262675
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.46125050C>A
GRCh37
chr4:g.46127067C>A
Linked Data - Sequence & Population
gnomAD v2:
4:46127067 C / A
gnomAD v3:
4:46125050 C / A
gnomAD v4:
chr4-46125050-C-A
Linked Data - NCBI & NCI
dbSNP:
7654165
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.46125050C>A , CM000666.2:g.46125050C>A
GRCh38
NC_000004.11:g.46127067C>A , CM000666.1:g.46127067C>A
GRCh37
NC_000004.10:g.45821824C>A
NCBI36
NG_046964.1:g.4016G>T
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