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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
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Canonical Allele Identifier:
CA2254274368
Gene: VTN
HGNC
NCBI
SARM1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2067941693
gnomAD v4:
17-28370343-CTGTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.28370346_28370349del , CM000679.2:g.28370346_28370349del
GRCh38
NC_000017.10:g.26697367_26697370del , CM000679.1:g.26697367_26697370del
GRCh37
NC_000017.9:g.23721494_23721497del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000226218.8:c.-144_-141del
(VTN)
ENSP00000226218.4:n.-144_-141del
ENST00000379061.8:n.170+5181_170+5184del
(SARM1)
ENST00000542029.1:c.-67-77_-67-74del
(VTN)
ENSP00000440439.1:n.-67-77_-67-74del
NM_000638.3:c.-144_-141del
(VTN)
NP_000629.3:n.-144_-141del
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