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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:
CA2245938380
Gene: TP53
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668337_7668338delinsGC , CM000679.2:g.7668337_7668338delinsGC
GRCh38
NC_000017.10:g.7571655_7571656delinsGC , CM000679.1:g.7571655_7571656delinsGC
GRCh37
NC_000017.9:g.7512380_7512381delinsGC
NCBI36
NG_017013.2:g.24213_24214delinsGC , LRG_321:g.24213_24214delinsGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-2094_994-2093delinsGC
ENSP00000352610.4:n.994-2094_994-2093delinsGC
ENST00000413465.6:c.782+5843_782+5844delinsGC
ENSP00000410739.2:n.782+5843_782+5844delinsGC
ENST00000635293.1:c.984-913_984-912delinsGC
ENSP00000488924.1:n.984-913_984-912delinsGC
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