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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:
CA739092711
Gene: PTGFR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1266995877
gnomAD v3:
1-78490580-CTGCGAG-C
gnomAD v4:
1-78490580-CTGCGAG-C
MyVariant Identifiers:
chr1:g.78956266_78956271del (hg19)
chr1:g.78490581_78490586del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.78490583_78490588del , CM000663.2:g.78490583_78490588del
GRCh38
NC_000001.10:g.78956268_78956273del , CM000663.1:g.78956268_78956273del
GRCh37
NC_000001.9:g.78728856_78728861del
NCBI36
NG_052997.1:g.4610_4615del
Transcript Alleles
HGVS
Amino-acid change
ENST00000370758.5:c.-72-2089_-72-2084del
ENSP00000359794.1:n.-72-2089_-72-2084del
XM_006710781.2:c.-72-2089_-72-2084del
XP_006710844.1:n.-72-2089_-72-2084del
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