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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:
CA2725136483
Gene:
Linked Data
dbSNP Id:
rs2135330249
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.112164628del , CM000673.2:g.112164628del
GRCh38
NC_000011.9:g.112035351del , CM000673.1:g.112035351del
GRCh37
NC_000011.8:g.111540561del
NCBI36
NG_028143.1:g.4490del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000525987.5:n.320-5791del
ENST00000531744.5:c.315-5791del
ENSP00000456957.1:n.315-5791del
ENST00000532699.1:c.315-5791del
ENSP00000456434.1:n.315-5791del
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