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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:
CA68119122
Gene: CAPN10-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs766288514
MyVariant Identifiers:
chr2:g.241522275_241522278del (hg19)
chr2:g.240582858_240582861del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240582860_240582863del , CM000664.2:g.240582860_240582863del
GRCh38
NC_000002.11:g.241522277_241522280del , CM000664.1:g.241522277_241522280del
GRCh37
NC_000002.10:g.241170950_241170953del
NCBI36
NG_011558.2:g.1145_1148del
Transcript Alleles
HGVS
Amino-acid Change
NR_103792.1:n.3456_3459del
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