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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:
CA2756174323
Gene: LAMB2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.49123054_49123132del , CM000665.2:g.49123054_49123132del
GRCh38
NC_000003.11:g.49160487_49160565del , CM000665.1:g.49160487_49160565del
GRCh37
NC_000003.10:g.49135491_49135569del
NCBI36
NG_008094.1:g.15039_15117del
NG_054716.1:g.2811_2889del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000305544.9:c.4224+4_4227del
ENST00000305544.8:c.4224+4_4227del
ENST00000418109.5:c.4224+4_4227del
ENST00000469665.1:n.458_536del
NM_002292.3:c.4224+4_4227del
XM_005265127.3:c.4224+4_4227del
XM_005265127.4:c.4224+4_4227del
NM_002292.4:c.4224+4_4227del
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