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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:
PA122287
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12369
ClinVar RCV Id:
RCV000013168
RCV000130617
RCV000417493
RCV000418145
RCV000425139
RCV000429500
RCV000423161
RCV000424222
RCV000428384
RCV000428836
RCV000442802
RCV000437544
RCV000691152
RCV000433405
RCV000435159
RCV000443817
RCV000520731
RCV000422094
RCV001257524
RCV000434485
RCV000439740
RCV000440812
RCV002288486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119590.1:p.Pro112Thr
CA000198
NM_001126118.1:c.334C>A