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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:
CA2560487988
Gene: RFTN1P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7718873_7718874insTGTAAATCATAAG , CM000686.2:g.7718873_7718874insTGTAAATCATAAG
GRCh38
NC_000024.9:g.7586914_7586915insTGTAAATCATAAG , CM000686.1:g.7586914_7586915insTGTAAATCATAAG
GRCh37
NC_000024.8:g.7646914_7646915insTGTAAATCATAAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.299-5777_299-5776insCTTATGATTTACA
ENST00000455527.5:n.883+2982_883+2983insCTTATGATTTACA
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