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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:
CA645563836
Gene: PROP1
HGNC
NCBI
Linked Data
COSMIC:
COSM1696810
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177993015_177993016delinsTT , CM000667.2:g.177993015_177993016delinsTT
GRCh38
NC_000005.9:g.177420016_177420017delinsTT , CM000667.1:g.177420016_177420017delinsTT
GRCh37
NC_000005.8:g.177352622_177352623delinsTT
NCBI36
NG_015889.1:g.8227_8228delinsAA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308304.2:c.374_375delinsAA
MANE Select
ENSP00000311290.2:p.Arg125Gln
NM_006261.4:c.374_375delinsAA
NP_006252.3:p.Arg125Gln
NM_006261.5:c.374_375delinsAA
MANE Select
NP_006252.4:p.Arg125Gln
Search 100 bp 5'
Search 100 bp 3'