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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:
CA1009905738
Gene: LAMC2
HGNC
NCBI
Linked Data
gnomAD v3:
1-183243181-C-CGCCGTATAA
gnomAD v4:
1-183243181-C-CGCCGTATAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243181_183243182insGCCGTATAA , CM000663.2:g.183243181_183243182insGCCGTATAA
GRCh38
NC_000001.10:g.183212316_183212317insGCCGTATAA , CM000663.1:g.183212316_183212317insGCCGTATAA
GRCh37
NC_000001.9:g.181478939_181478940insGCCGTATAA
NCBI36
NG_007079.2:g.61918_61919insGCCGTATAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000264144.5:c.3363_3364insGCCGTATAA
ENST00000264144.4:c.3363_3364insGCCGTATAA
NM_005562.2:c.3363_3364insGCCGTATAA
NM_005562.3:c.3363_3364insGCCGTATAA
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