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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:
CA2366478128
Gene: MMP9
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46010173_46010174delinsTC , CM000682.2:g.46010173_46010174delinsTC
GRCh38
NC_000020.10:g.44638812_44638813delinsTC , CM000682.1:g.44638812_44638813delinsTC
GRCh37
NC_000020.9:g.44072219_44072220delinsTC
NCBI36
NG_011468.1:g.6266_6267delinsTC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372330.3:c.371+75_371+76delinsTC
MANE Select
ENSP00000361405.3:n.371+75_371+76delinsTC
NM_004994.2:c.371+75_371+76delinsTC
NP_004985.2:n.371+75_371+76delinsTC
NM_004994.3:c.371+75_371+76delinsTC
MANE Select
NP_004985.2:n.371+75_371+76delinsTC
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