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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:
CA1905813999
Gene: RET
HGNC
NCBI
Linked Data
dbSNP Id:
rs1837056579
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.43077065_43077081del , CM000672.2:g.43077065_43077081del
GRCh38
NC_000010.10:g.43572513_43572529del , CM000672.1:g.43572513_43572529del
GRCh37
NC_000010.9:g.42892519_42892535del
NCBI36
NG_007489.1:g.4997_5013del , LRG_518:g.4997_5013del
Transcript Alleles
HGVS
Amino-acid change
ENST00000355710.7:c.-194_-178del
ENSP00000347942.3:n.-194_-178del
XM_011540027.1:c.-194_-178del
XP_011538329.1:n.-194_-178del
NM_020630.5:c.-194_-178del
NP_065681.1:n.-194_-178del
NM_020975.5:c.-194_-178del
NP_066124.1:n.-194_-178del
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