ClinGen Allele Registry
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Canonical Allele Identifier:
CA120295340
Gene: NT5ELP
HGNC
NCBI
Linked Data
dbSNP Id:
rs199760
MyVariant Identifiers:
chr5:g.63742337A>T (hg19)
chr5:g.64446510A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.64446510A>T , CM000667.2:g.64446510A>T
GRCh38
NC_000005.9:g.63742337A>T , CM000667.1:g.63742337A>T
GRCh37
NC_000005.8:g.63778093A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438016.2:n.222+4161T>A
Search 100 bp 5'
Search 100 bp 3'