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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:
CA718009954
Gene: RMI2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1341679653
MyVariant Identifiers:
chr16:g.11403713del (hg19)
chr16:g.11309856del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.11309857del , CM000678.2:g.11309857del
GRCh38
NC_000016.9:g.11403714del , CM000678.1:g.11403714del
GRCh37
NC_000016.8:g.11311215del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649869.1:n.152+60079del
ENST00000572173.1:c.-436-2972del
ENSP00000461206.1:n.-436-2972del
ENST00000573910.1:n.161-6595del
XR_933070.1:n.733+60079del
XR_933070.3:n.876+60079del
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