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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:
CA2695227237
Gene: MC2R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13884657dup , CM000680.2:g.13884657dup
GRCh38
NC_000018.9:g.13884656dup , CM000680.1:g.13884656dup
GRCh37
NC_000018.8:g.13874656dup
NCBI36
NG_011819.1:g.35884dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327606.4:c.866dup
MANE Select
ENSP00000333821.2:p.Met290AspfsTer?
ENST00000327606.3:c.866dup
ENSP00000333821.2:p.Met290AspfsTer?
NM_000529.2:c.866dup
MANE Select
NP_000520.1:p.Met290AspfsTer?
NM_001291911.1:c.866dup
NP_001278840.1:p.Met290AspfsTer?
XM_017025781.1:c.866dup
XP_016881270.1:p.Met290AspfsTer?
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