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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:
CA1177857839
Gene: PTGFR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1649365994
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.78490706_78490707insA , CM000663.2:g.78490706_78490707insA
GRCh38
NC_000001.10:g.78956391_78956392insA , CM000663.1:g.78956391_78956392insA
GRCh37
NC_000001.9:g.78728979_78728980insA
NCBI36
NG_052997.1:g.4733_4734insA
Transcript Alleles
HGVS
Amino-acid change
ENST00000370758.5:c.-72-1966_-72-1965insA
ENSP00000359794.1:n.-72-1966_-72-1965insA
XM_006710781.2:c.-72-1966_-72-1965insA
XP_006710844.1:n.-72-1966_-72-1965insA
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