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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:
CA2503925757
Gene: TP53
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668252_7668271dup , CM000679.2:g.7668252_7668271dup
GRCh38
NC_000017.10:g.7571570_7571589dup , CM000679.1:g.7571570_7571589dup
GRCh37
NC_000017.9:g.7512295_7512314dup
NCBI36
NG_017013.2:g.24282_24301dup , LRG_321:g.24282_24301dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-2025_994-2006dup
ENSP00000352610.4:n.994-2025_994-2006dup
ENST00000413465.6:c.782+5912_782+5931dup
ENSP00000410739.2:n.782+5912_782+5931dup
ENST00000635293.1:c.984-844_984-825dup
ENSP00000488924.1:n.984-844_984-825dup
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