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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:
CA380058873
Gene: FANCF
HGNC
NCBI
Linked Data
dbSNP Id:
rs2133797542
MyVariant Identifiers:
chr11:g.22646834G>A (hg19)
chr11:g.22625288G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.22625288G>A , CM000673.2:g.22625288G>A
GRCh38
NC_000011.9:g.22646834G>A , CM000673.1:g.22646834G>A
GRCh37
NC_000011.8:g.22603410G>A
NCBI36
NG_007425.1:g.5554C>T , LRG_527:g.5554C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000327470.6:c.523C>T
MANE Select
ENSP00000330875.3:p.Gln175Ter
ENST00000327470.4:c.523C>T
ENSP00000330875.3:p.Gln175Ter
NM_022725.3:c.523C>T , LRG_527t1:c.523C>T
NP_073562.1:p.Gln175Ter
NM_022725.4:c.523C>T
MANE Select
NP_073562.1:p.Gln175Ter
Search 100 bp 5'
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