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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:
CA805365419
Gene: C5orf46
HGNC
NCBI
Linked Data
dbSNP Id:
rs1335026222
MyVariant Identifiers:
chr5:g.147234602_147234603insT (hg19)
chr5:g.147855039_147855040insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.147855039_147855040insT , CM000667.2:g.147855039_147855040insT
GRCh38
NC_000005.9:g.147234602_147234603insT , CM000667.1:g.147234602_147234603insT
GRCh37
NC_000005.8:g.147214795_147214796insT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_017009459.1:c.261-4498_261-4497insA
XP_016864948.1:n.261-4498_261-4497insA
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