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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:
CA1082697852
Gene: C5orf46
HGNC
NCBI
Linked Data
dbSNP Id:
rs1756867311
gnomAD v3:
5-147855037-C-CTAT
gnomAD v4:
5-147855037-C-CTAT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.147855037_147855038insTAT , CM000667.2:g.147855037_147855038insTAT
GRCh38
NC_000005.9:g.147234600_147234601insTAT , CM000667.1:g.147234600_147234601insTAT
GRCh37
NC_000005.8:g.147214793_147214794insTAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_017009459.1:c.261-4496_261-4495insATA
XP_016864948.1:n.261-4496_261-4495insATA
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