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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:
CA2641150771
Gene: MC2R
HGNC
NCBI
Linked Data
gnomAD v4:
18-13884699-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13884703del , CM000680.2:g.13884703del
GRCh38
NC_000018.9:g.13884702del , CM000680.1:g.13884702del
GRCh37
NC_000018.8:g.13874702del
NCBI36
NG_011819.1:g.35837del
Transcript Alleles
HGVS
Amino-acid change
ENST00000327606.4:c.819del
MANE Select
ENSP00000333821.2:p.Phe274SerfsTer17
ENST00000327606.3:c.819del
ENSP00000333821.2:p.Phe274SerfsTer17
NM_000529.2:c.819del
MANE Select
NP_000520.1:p.Phe274SerfsTer17
NM_001291911.1:c.819del
NP_001278840.1:p.Phe274SerfsTer17
XM_017025781.1:c.819del
XP_016881270.1:p.Phe274SerfsTer17
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