ClinGen Allele Registry
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Canonical Allele Identifier:
CA798304273
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.73998833G>A
GRCh37
chr4:g.74864550G>A
Linked Data - Sequence & Population
gnomAD v3:
4:73998833 G / A
gnomAD v4:
chr4-73998833-G-A
Joint Max Group AF
0.00000636 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Linked Data - NCBI & NCI
dbSNP:
352046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73998833G>A , CM000666.2:g.73998833G>A
GRCh38
NC_000004.11:g.74864550G>A , CM000666.1:g.74864550G>A
GRCh37
NC_000004.10:g.75083414G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938874.1:n.61G>A
Search 100 bp 5'
Search 100 bp 3'