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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:
CA1139018292
Gene: RFTN1P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2014195258
gnomAD v3:
Y-7738483-G-GGT
gnomAD v4:
Y-7738483-G-GGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7738483_7738484insGT , CM000686.2:g.7738483_7738484insGT
GRCh38
NC_000024.9:g.7606524_7606525insGT , CM000686.1:g.7606524_7606525insGT
GRCh37
NC_000024.8:g.7666524_7666525insGT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651261.1:n.299-25387_299-25386insAC
ENST00000455527.5:n.297-8644_297-8643insAC
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