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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:
CA2575378806
Gene: PDX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924233dup , CM000675.2:g.27924233dup
GRCh38
NC_000013.10:g.28498370dup , CM000675.1:g.28498370dup
GRCh37
NC_000013.9:g.27396370dup
NCBI36
NG_008183.1:g.9203dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000381033.5:c.407-23dup
MANE Select
ENSP00000370421.4:n.407-23dup
ENST00000381033.4:c.407-23dup
ENSP00000370421.4:n.407-23dup
NM_000209.3:c.407-23dup
NP_000200.1:n.407-23dup
XR_941578.1:n.3534-23dup
XR_941579.1:n.2133-23dup
XR_941580.1:n.1049-23dup
XR_941578.2:n.3546-23dup
XR_941580.2:n.1061-23dup
NM_000209.4:c.407-23dup
MANE Select
NP_000200.1:n.407-23dup
Search 100 bp 5'
Search 100 bp 3'