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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:
CA2285919169
Gene: MC2R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1668206250
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13884604del , CM000680.2:g.13884604del
GRCh38
NC_000018.9:g.13884603del , CM000680.1:g.13884603del
GRCh37
NC_000018.8:g.13874603del
NCBI36
NG_011819.1:g.35933del
Transcript Alleles
HGVS
Amino-acid change
ENST00000327606.4:c.*21del
MANE Select
ENSP00000333821.2:n.*21del
ENST00000327606.3:c.*21del
ENSP00000333821.2:n.*21del
NM_000529.2:c.*21del
MANE Select
NP_000520.1:n.*21del
NM_001291911.1:c.*21del
NP_001278840.1:n.*21del
XM_017025781.1:c.*21del
XP_016881270.1:n.*21del
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