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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:
CA2469951982
Gene: RFTN1P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7718739_7718743delinsTATAA , CM000686.2:g.7718739_7718743delinsTATAA
GRCh38
NC_000024.9:g.7586780_7586784delinsTATAA , CM000686.1:g.7586780_7586784delinsTATAA
GRCh37
NC_000024.8:g.7646780_7646784delinsTATAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.299-5646_299-5642delinsTTATA
ENST00000455527.5:n.883+3113_883+3117delinsTTATA
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