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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:
CA2307359169
Gene: MC4R
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371856_60371857delinsCG , CM000680.2:g.60371856_60371857delinsCG
GRCh38
NC_000018.9:g.58039089_58039090delinsCG , CM000680.1:g.58039089_58039090delinsCG
GRCh37
NC_000018.8:g.56190069_56190070delinsCG
NCBI36
NG_016441.1:g.5912_5913delinsCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.493_494delinsCG
MANE Select
ENSP00000299766.3:p.Arg165=
ENST00000299766.4:c.493_494delinsCG
ENSP00000299766.3:p.Arg165=
NM_005912.2:c.493_494delinsCG
NP_005903.2:p.Arg165=
NM_005912.3:c.493_494delinsCG
MANE Select
NP_005903.2:p.Arg165=
Search 100 bp 5'
Search 100 bp 3'