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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:
CA1905833066
Gene: RET
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.43130300A= , CM000672.2:g.43130300A=
GRCh38
NC_000010.10:g.43625748A= , CM000672.1:g.43625748A=
GRCh37
NC_000010.9:g.42945754A=
NCBI36
NG_007489.1:g.58232A= , LRG_518:g.58232A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355710.8:c.*2031A=
MANE Select
ENSP00000347942.3:n.*2031A=
ENST00000355710.7:c.*2031A=
ENSP00000347942.3:n.*2031A=
ENST00000615310.4:c.*2725A=
ENSP00000480088.1:n.*2725A=
NM_020975.4:c.*2031A= , LRG_518t1:c.*2031A=
NP_066124.1:n.*2031A=
XM_011540027.1:c.*799A=
XP_011538329.1:n.*799A=
NM_020975.5:c.*2031A=
NP_066124.1:n.*2031A=
NM_020975.6:c.*2031A=
MANE Select
NP_066124.1:n.*2031A=
Search 100 bp 5'
Search 100 bp 3'