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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
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Canonical Allele Identifier:
CA2824959412
Gene: PUDPP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15381507_15381508insCATAC , CM000686.2:g.15381507_15381508insCATAC
GRCh38
NC_000024.9:g.17493387_17493388insCATAC , CM000686.1:g.17493387_17493388insCATAC
GRCh37
NC_000024.8:g.16002781_16002782insCATAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421058.1:n.290+85_290+86insGTATG
Search 100 bp 5'
Search 100 bp 3'