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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:
CA2580074149
Gene: PROP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2023152
ClinVar RCV Id:
RCV002857737
gnomAD v4:
5-177995838-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177995842del , CM000667.2:g.177995842del
GRCh38
NC_000005.9:g.177422843del , CM000667.1:g.177422843del
GRCh37
NC_000005.8:g.177355449del
NCBI36
NG_015889.1:g.5404del
Transcript Alleles
HGVS
Amino-acid change
ENST00000308304.2:c.95del
MANE Select
ENSP00000311290.2:p.Pro32ArgfsTer?
NM_006261.4:c.95del
NP_006252.3:p.Pro32ArgfsTer?
NM_006261.5:c.95del
MANE Select
NP_006252.4:p.Pro32ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'