ClinGen Allele Registry
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Canonical Allele Identifier:
CA103713958
Gene: ENPEP
HGNC
NCBI
Linked Data
dbSNP Id:
rs984234936
gnomAD v2:
4-111381673-G-A
gnomAD v3:
4-110460517-G-A
gnomAD v4:
4-110460517-G-A
MyVariant Identifiers:
chr4:g.111381673G>A (hg19)
chr4:g.110460517G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.110460517G>A , CM000666.2:g.110460517G>A
GRCh38
NC_000004.11:g.111381673G>A , CM000666.1:g.111381673G>A
GRCh37
NC_000004.10:g.111601122G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510961.1:n.73-28024G>A
Search 100 bp 5'
Search 100 bp 3'