ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA785288258
Gene: ENPEP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1229797082
gnomAD v3:
4-110460497-T-C
gnomAD v4:
4-110460497-T-C
MyVariant Identifiers:
chr4:g.111381653T>C (hg19)
chr4:g.110460497T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.110460497T>C , CM000666.2:g.110460497T>C
GRCh38
NC_000004.11:g.111381653T>C , CM000666.1:g.111381653T>C
GRCh37
NC_000004.10:g.111601102T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510961.1:n.73-28044T>C
Search 100 bp 5'
Search 100 bp 3'