ClinGen Allele Registry
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Canonical Allele Identifier:
CA785288256
Gene: ENPEP
HGNC
NCBI
Linked Data
dbSNP Id:
rs1229797082
MyVariant Identifiers:
chr4:g.111381653T>G (hg19)
chr4:g.110460497T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.110460497T>G , CM000666.2:g.110460497T>G
GRCh38
NC_000004.11:g.111381653T>G , CM000666.1:g.111381653T>G
GRCh37
NC_000004.10:g.111601102T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510961.1:n.73-28044T>G
Search 100 bp 5'
Search 100 bp 3'