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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
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Canonical Allele Identifier:
CA2631746637
Gene: RMI2
HGNC
NCBI
Linked Data
gnomAD v4:
16-11281455-T-TGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.11281455_11281456insGA , CM000678.2:g.11281455_11281456insGA
GRCh38
NC_000016.9:g.11375312_11375313insGA , CM000678.1:g.11375312_11375313insGA
GRCh37
NC_000016.8:g.11282813_11282814insGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000649869.1:n.152+31677_152+31678insGA
ENST00000572173.1:c.-515-13761_-515-13760insGA
ENSP00000461206.1:n.-515-13761_-515-13760insGA
ENST00000573910.1:n.160+31677_160+31678insGA
XR_933070.1:n.733+31677_733+31678insGA
XR_933070.3:n.876+31677_876+31678insGA
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