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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:
CA2812704170
Gene: MC4R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60372219dup , CM000680.2:g.60372219dup
GRCh38
NC_000018.9:g.58039452dup , CM000680.1:g.58039452dup
GRCh37
NC_000018.8:g.56190432dup
NCBI36
NG_016441.1:g.5554dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.135dup
MANE Select
ENSP00000299766.3:p.Val46CysfsTer4
ENST00000299766.4:c.135dup
ENSP00000299766.3:p.Val46CysfsTer4
NM_005912.2:c.135dup
NP_005903.2:p.Val46CysfsTer4
NM_005912.3:c.135dup
MANE Select
NP_005903.2:p.Val46CysfsTer4
Search 100 bp 5'
Search 100 bp 3'