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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:
CA166742048
Gene: LEP
HGNC
NCBI
Linked Data
dbSNP Id:
rs201381696
gnomAD v4:
7-128241249-A-G
MyVariant Identifiers:
chr7:g.127881302A>G (hg19)
chr7:g.128241249A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.128241249A>G , CM000669.2:g.128241249A>G
GRCh38
NC_000007.13:g.127881302A>G , CM000669.1:g.127881302A>G
GRCh37
NC_000007.12:g.127668538A>G
NCBI36
NG_007450.1:g.4972A>G
Transcript Alleles
HGVS
Amino-acid change
XM_005250340.3:c.-86A>G
XP_005250397.1:n.-86A>G
XM_005250340.5:c.-86A>G
XP_005250397.1:n.-86A>G
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