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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:
CA2824959417
Gene: PUDPP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.15381527_15381528insCAGAT , CM000686.2:g.15381527_15381528insCAGAT
GRCh38
NC_000024.9:g.17493407_17493408insCAGAT , CM000686.1:g.17493407_17493408insCAGAT
GRCh37
NC_000024.8:g.16002801_16002802insCAGAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421058.1:n.290+65_290+66insATCTG
Search 100 bp 5'
Search 100 bp 3'