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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:
CA2741569048
Gene: MC2R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13885042dup , CM000680.2:g.13885042dup
GRCh38
NC_000018.9:g.13885041dup , CM000680.1:g.13885041dup
GRCh37
NC_000018.8:g.13875041dup
NCBI36
NG_011819.1:g.35498dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000327606.4:c.480dup
MANE Select
ENSP00000333821.2:p.Thr161AspfsTer?
ENST00000327606.3:c.480dup
ENSP00000333821.2:p.Thr161AspfsTer?
NM_000529.2:c.480dup
MANE Select
NP_000520.1:p.Thr161AspfsTer?
NM_001291911.1:c.480dup
NP_001278840.1:p.Thr161AspfsTer?
XM_017025781.1:c.480dup
XP_016881270.1:p.Thr161AspfsTer?
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