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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:
CA707588500
Gene:
Linked Data
dbSNP Id:
rs58095767
MyVariant Identifiers:
chr14:g.62968300_62968301del (hg19)
chr14:g.62501582_62501583del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501584_62501585del , CM000676.2:g.62501584_62501585del
GRCh38
NC_000014.8:g.62968302_62968303del , CM000676.1:g.62968302_62968303del
GRCh37
NC_000014.7:g.62038055_62038056del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2457_116-2456del
XR_943932.2:n.103-2457_103-2456del
Search 100 bp 5'
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