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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:
CA2695227733
Gene: MC4R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371746_60371757del , CM000680.2:g.60371746_60371757del
GRCh38
NC_000018.9:g.58038979_58038990del , CM000680.1:g.58038979_58038990del
GRCh37
NC_000018.8:g.56189959_56189970del
NCBI36
NG_016441.1:g.6020_6031del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.601_612del
MANE Select
ENSP00000299766.3:p.Phe201_Met204del
ENST00000299766.4:c.601_612del
ENSP00000299766.3:p.Phe201_Met204del
NM_005912.2:c.601_612del
NP_005903.2:p.Phe201_Met204del
NM_005912.3:c.601_612del
MANE Select
NP_005903.2:p.Phe201_Met204del
Search 100 bp 5'
Search 100 bp 3'