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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:
CA2561934616
Gene: C5orf46
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.147855155_147855156del , CM000667.2:g.147855155_147855156del
GRCh38
NC_000005.9:g.147234718_147234719del , CM000667.1:g.147234718_147234719del
GRCh37
NC_000005.8:g.147214911_147214912del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_017009459.1:c.261-4612_261-4611del
XP_016864948.1:n.261-4612_261-4611del
Search 100 bp 5'
Search 100 bp 3'