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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:
CA2535088453
Gene: RFTN1P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7779221del , CM000686.2:g.7779221del
GRCh38
NC_000024.9:g.7647262del , CM000686.1:g.7647262del
GRCh37
NC_000024.8:g.7707262del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.115-2512del
ENST00000652723.1:n.1027-2512del
ENST00000442584.2:n.219-2188del
Search 100 bp 5'
Search 100 bp 3'