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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:
CA697349737
Gene: FRY
HGNC
NCBI
EEF1DP3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1264298100
MyVariant Identifiers:
chr13:g.32446895del (hg19)
chr13:g.31872758del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.31872761del , CM000675.2:g.31872761del
GRCh38
NC_000013.10:g.32446898del , CM000675.1:g.32446898del
GRCh37
NC_000013.9:g.31344898del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000645780.1:c.-254+25822del
(FRY)
ENSP00000494080.1:n.-254+25822del
ENST00000428783.1:n.99+25822del
(EEF1DP3)
NR_027062.1:n.157+25822del
(EEF1DP3)
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