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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:
CA2696213524
Gene: PTGFR
HGNC
NCBI
Linked Data
dbSNP Id:
rs2100340051
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.78490602T>C , CM000663.2:g.78490602T>C
GRCh38
NC_000001.10:g.78956287T>C , CM000663.1:g.78956287T>C
GRCh37
NC_000001.9:g.78728875T>C
NCBI36
NG_052997.1:g.4629T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000370758.5:c.-72-2070T>C
ENSP00000359794.1:n.-72-2070T>C
XM_006710781.2:c.-72-2070T>C
XP_006710844.1:n.-72-2070T>C
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