ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA798375020
Gene:
Linked Data
dbSNP Id:
rs1418412565
gnomAD v3:
4-74554083-A-G
gnomAD v4:
4-74554083-A-G
MyVariant Identifiers:
chr4:g.74554083A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554083A>G , CM000666.2:g.74554083A>G
GRCh38
NC_000004.11:g.75419800A>G , CM000666.1:g.75419800A>G
GRCh37
NC_000004.10:g.75638664A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1251T>C
Search 100 bp 5'
Search 100 bp 3'