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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:
CA294443029
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs929694813
MyVariant Identifiers:
chr17:g.69125535A>G (hg19)
chr17:g.71129394A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129394A>G , CM000679.2:g.71129394A>G
GRCh38
NC_000017.10:g.69125535A>G , CM000679.1:g.69125535A>G
GRCh37
NC_000017.9:g.66637130A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+2996T>C
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