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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:
CA1589775407
Gene: C5orf46
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.147855045G= , CM000667.2:g.147855045G=
GRCh38
NC_000005.9:g.147234608G= , CM000667.1:g.147234608G=
GRCh37
NC_000005.8:g.147214801G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017009459.1:c.261-4503C=
XP_016864948.1:n.261-4503C=
Search 100 bp 5'
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