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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:
CA1339187190
Gene: CAPN10-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240582857_240582861delinsTTAAA , CM000664.2:g.240582857_240582861delinsTTAAA
GRCh38
NC_000002.11:g.241522274_241522278delinsTTAAA , CM000664.1:g.241522274_241522278delinsTTAAA
GRCh37
NC_000002.10:g.241170947_241170951delinsTTAAA
NCBI36
NG_011558.2:g.1142_1146delinsTTAAA
Transcript Alleles
HGVS
Amino-acid change
NR_103792.1:n.3456_3460delinsTTTAA
Search 100 bp 5'
Search 100 bp 3'