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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1076864913
Gene: NT5ELP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.64446447_64446452del , CM000667.2:g.64446447_64446452del
GRCh38
NC_000005.9:g.63742274_63742279del , CM000667.1:g.63742274_63742279del
GRCh37
NC_000005.8:g.63778030_63778035del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438016.2:n.222+4219_222+4224del
Search 100 bp 5'
Search 100 bp 3'