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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:
CA1551651323
Gene: NT5ELP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.64446452_64446453delinsCA , CM000667.2:g.64446452_64446453delinsCA
GRCh38
NC_000005.9:g.63742279_63742280delinsCA , CM000667.1:g.63742279_63742280delinsCA
GRCh37
NC_000005.8:g.63778035_63778036delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438016.2:n.222+4218_222+4219delinsTG
Search 100 bp 5'
Search 100 bp 3'