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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:
CA645608455
Gene: MT-ND1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1569483915
COSMIC:
COSM1138368
COSM1138369
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4092G>A , J01415.2:m.4092G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.786G>A
ENSP00000354687.2:p.Lys262=
Search 100 bp 5'
Search 100 bp 3'