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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:
CA2469952629
Gene: RFTN1P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7736201_7736203delinsCAT , CM000686.2:g.7736201_7736203delinsCAT
GRCh38
NC_000024.9:g.7604242_7604244delinsCAT , CM000686.1:g.7604242_7604244delinsCAT
GRCh37
NC_000024.8:g.7664242_7664244delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.299-23106_299-23104delinsATG
ENST00000455527.5:n.297-6363_297-6361delinsATG
Search 100 bp 5'
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