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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:
CA2770491058
Gene: HLA-C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31270164_31270214del , CM000668.2:g.31270164_31270214del
GRCh38
NC_000006.11:g.31237941_31237991del , CM000668.1:g.31237941_31237991del
GRCh37
NC_000006.10:g.31345920_31345970del
NCBI36
NG_029422.2:g.6918_6968del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376228.10:c.891_895+46del
ENST00000376228.9:c.891_895+46del
ENST00000376237.8:c.*478_*482+46del
ENST00000383329.7:c.891_895+46del
ENST00000470363.5:n.209_213+46del
ENST00000487245.5:n.1250_1254+46del
NM_002117.5:c.891_895+46del
NM_002117.6:c.891_895+46del
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