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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:
CA2518992432
Gene: RFTN1P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7779343_7779344dup , CM000686.2:g.7779343_7779344dup
GRCh38
NC_000024.9:g.7647384_7647385dup , CM000686.1:g.7647384_7647385dup
GRCh37
NC_000024.8:g.7707384_7707385dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.115-2629_115-2628dup
ENST00000652723.1:n.1027-2629_1027-2628dup
ENST00000442584.2:n.219-2305_219-2304dup
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