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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:
CA2670266578
Gene: CCKAR
HGNC
NCBI
Linked Data
gnomAD v4:
4-26490125-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.26490126del , CM000666.2:g.26490126del
GRCh38
NC_000004.11:g.26491748del , CM000666.1:g.26491748del
GRCh37
NC_000004.10:g.26100846del
NCBI36
NG_012053.1:g.5295del
Transcript Alleles
HGVS
Amino-acid change
ENST00000295589.4:c.112+30del
MANE Select
ENSP00000295589.3:n.112+30del
ENST00000295589.3:c.112+30del
ENSP00000295589.3:n.112+30del
NM_000730.2:c.112+30del
NP_000721.1:n.112+30del
NM_000730.3:c.112+30del
MANE Select
NP_000721.1:n.112+30del
Search 100 bp 5'
Search 100 bp 3'