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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:
CA1395448078
Gene: LSAMP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.117061174_117061176delinsAAT , CM000665.2:g.117061174_117061176delinsAAT
GRCh38
NC_000003.11:g.116780021_116780023delinsAAT , CM000665.1:g.116780021_116780023delinsAAT
GRCh37
NC_000003.10:g.118262711_118262713delinsAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000474851.1:c.34-51802_34-51800delinsATT
ENSP00000418506.1:n.34-51802_34-51800delinsATT
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