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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:
CA1474700642
Gene: PPM1K-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.88322494_88322497delinsAATT , CM000666.2:g.88322494_88322497delinsAATT
GRCh38
NC_000004.11:g.89243646_89243649delinsAATT , CM000666.1:g.89243646_89243649delinsAATT
GRCh37
NC_000004.10:g.89462670_89462673delinsAATT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_244670.3:n.641+3069_641+3072delinsAATT
XR_938963.1:n.641+3069_641+3072delinsAATT
NR_134236.1:n.425+3069_425+3072delinsAATT
NR_134237.1:n.349+3069_349+3072delinsAATT
NR_134238.1:n.330+5687_330+5690delinsAATT
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