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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:
CA920609044
Gene: MT-CO2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603221358
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8260del , J01415.2:m.8260del
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361739.1:c.675del
ENSP00000354876.1:p.Phe225LeufsTer?
Search 100 bp 5'
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