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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
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Canonical Allele Identifier:
CA2824894671
Gene: SFPQP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13090758_13090759insT , CM000686.2:g.13090758_13090759insT
GRCh38
NC_000024.9:g.15202672_15202673insT , CM000686.1:g.15202672_15202673insT
GRCh37
NC_000024.8:g.13712066_13712067insT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000446621.1:n.556-3817_556-3816insT
Search 100 bp 5'
Search 100 bp 3'