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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:
CA2307359171
Gene: MC4R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1915350464
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371857del , CM000680.2:g.60371857del
GRCh38
NC_000018.9:g.58039090del , CM000680.1:g.58039090del
GRCh37
NC_000018.8:g.56190070del
NCBI36
NG_016441.1:g.5912del
Transcript Alleles
HGVS
Amino-acid change
ENST00000299766.5:c.493del
MANE Select
ENSP00000299766.3:p.Arg165GlyfsTer6
ENST00000299766.4:c.493del
ENSP00000299766.3:p.Arg165GlyfsTer6
NM_005912.2:c.493del
NP_005903.2:p.Arg165GlyfsTer6
NM_005912.3:c.493del
MANE Select
NP_005903.2:p.Arg165GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'