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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:
CA2085925822
Gene: LHFPL6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39329100_39329101delinsCA , CM000675.2:g.39329100_39329101delinsCA
GRCh38
NC_000013.10:g.39903237_39903238delinsCA , CM000675.1:g.39903237_39903238delinsCA
GRCh37
NC_000013.9:g.38801237_38801238delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000648377.1:c.*82+14753_*82+14754delinsTG
ENSP00000496801.1:n.*82+14753_*82+14754delinsTG
XR_001749845.1:n.1449+7170_1449+7171delinsTG
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