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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:
CA2223706901
Gene: MMP2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1455253497
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.55476008dup , CM000678.2:g.55476008dup
GRCh38
NC_000016.9:g.55509920dup , CM000678.1:g.55509920dup
GRCh37
NC_000016.8:g.54067421dup
NCBI36
NG_008989.1:g.1840dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000570308.5:c.-75-6901dup
ENSP00000461421.1:n.-75-6901dup
Search 100 bp 5'
Search 100 bp 3'