ClinGen Allele Registry
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Canonical Allele Identifier:
CA648871056
Gene: ENPEP
HGNC
NCBI
Linked Data
COSMIC:
COSN21818374
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.110460487T>G , CM000666.2:g.110460487T>G
GRCh38
NC_000004.11:g.111381643T>G , CM000666.1:g.111381643T>G
GRCh37
NC_000004.10:g.111601092T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510961.1:n.73-28054T>G
Search 100 bp 5'
Search 100 bp 3'