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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:
CA2737771512
Gene: DGCR5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2146253852
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.18979130_18979132del , CM000684.2:g.18979130_18979132del
GRCh38
NC_000022.10:g.18966643_18966645del , CM000684.1:g.18966643_18966645del
GRCh37
NC_000022.9:g.17346643_17346645del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_002733.2:n.161+8472_161+8474del
NR_045121.1:n.161+8472_161+8474del
NR_110533.1:n.161+8472_161+8474del
NR_002733.3:n.191+8472_191+8474del
NR_024159.2:n.191+8472_191+8474del
NR_026651.2:n.191+8472_191+8474del
NR_045121.2:n.191+8472_191+8474del
NR_110533.2:n.191+8472_191+8474del
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