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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:
CA410440755
Gene: LRRC3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr21:g.45876631A>G (hg19)
chr21:g.44456748A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.44456748A>G , CM000683.2:g.44456748A>G
GRCh38
NC_000021.8:g.45876631A>G , CM000683.1:g.45876631A>G
GRCh37
NC_000021.7:g.44701059A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000291592.6:c.104A>G
MANE Select
ENSP00000291592.4:p.Gln35Arg
ENST00000291592.5:c.104A>G
ENSP00000291592.4:p.Gln35Arg
NM_030891.4:c.104A>G
NP_112153.1:p.Gln35Arg
NM_030891.5:c.104A>G
NP_112153.1:p.Gln35Arg
NM_030891.6:c.104A>G
MANE Select
NP_112153.1:p.Gln35Arg
Search 100 bp 5'
Search 100 bp 3'