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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:
CA370280014
Gene: RP1L1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.10608192_10608239del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.10608193_10608240del , CM000670.2:g.10608193_10608240del
GRCh38
NC_000008.10:g.10465703_10465750del , CM000670.1:g.10465703_10465750del
GRCh37
NC_000008.9:g.10503113_10503160del
NCBI36
NG_028035.1:g.51869_51916del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000382483.4:c.5859_5906del
MANE Select
ENSP00000371923.3:p.Thr1954_Glu1969del
ENST00000382483.3:c.5859_5906del
ENSP00000371923.3:p.Thr1954_Glu1969del
NM_178857.5:c.5859_5906del
NP_849188.4:p.Thr1954_Glu1969del
NM_178857.6:c.5859_5906del
MANE Select
NP_849188.4:p.Thr1954_Glu1969del
Search 100 bp 5'
Search 100 bp 3'