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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:
CA2609782772
Gene: IMPDH1P5
HGNC
NCBI
Linked Data
gnomAD v4:
10-77780891-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.77780893del , CM000672.2:g.77780893del
GRCh38
NC_000010.10:g.79540651del , CM000672.1:g.79540651del
GRCh37
NC_000010.9:g.79210657del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000439688.1:n.985del
Search 100 bp 5'
Search 100 bp 3'