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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:
CA1939014526
Gene: SHTN1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1853027360
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117067982_117067983del , CM000672.2:g.117067982_117067983del
GRCh38
NC_000010.10:g.118827493_118827494del , CM000672.1:g.118827493_118827494del
GRCh37
NC_000010.9:g.118817483_118817484del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000392901.10:c.-188-19472_-188-19471del
ENSP00000376635.4:n.-188-19472_-188-19471...
ENST00000392901.8:c.-188-19472_-188-19471del
ENSP00000376635.4:n.-188-19472_-188-19471...
NM_001258300.1:c.-188-19472_-188-19471del
NP_001245229.1:n.-188-19472_-188-19471del...
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