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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:
CA2770491043
Gene: HLA-C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31270113_31270229del , CM000668.2:g.31270113_31270229del
GRCh38
NC_000006.11:g.31237890_31238006del , CM000668.1:g.31237890_31238006del
GRCh37
NC_000006.10:g.31345869_31345985del
NCBI36
NG_029422.2:g.6913_7029del
Transcript Alleles
HGVS
Amino-acid change
ENST00000376228.10:c.886_896-18del
ENST00000376228.9:c.886_896-18del
ENST00000376237.8:c.*473_*483-18del
ENST00000383329.7:c.886_896-18del
ENST00000470363.5:n.204_214-18del
ENST00000487245.5:n.1245_1255-18del
NM_002117.5:c.886_896-18del
NM_002117.6:c.886_896-18del
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