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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:
CA82144666
Gene: LSAMP
HGNC
NCBI
Linked Data
dbSNP Id:
rs954796476
gnomAD v3:
3-117061196-TCC-T
gnomAD v4:
3-117061196-TCC-T
MyVariant Identifiers:
chr3:g.116780044_116780045del (hg19)
chr3:g.117061197_117061198del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.117061199_117061200del , CM000665.2:g.117061199_117061200del
GRCh38
NC_000003.11:g.116780046_116780047del , CM000665.1:g.116780046_116780047del
GRCh37
NC_000003.10:g.118262736_118262737del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000474851.1:c.34-51824_34-51823del
ENSP00000418506.1:n.34-51824_34-51823del
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