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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:
CA401621860
Gene: FN3K
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.80708509G>C (hg19)
chr17:g.82750633G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.82750633G>C , CM000679.2:g.82750633G>C
GRCh38
NC_000017.10:g.80708509G>C , CM000679.1:g.80708509G>C
GRCh37
NC_000017.9:g.78301798G>C
NCBI36
NG_011721.1:g.3570G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000300784.8:c.808G>C
MANE Select
ENSP00000300784.7:p.Ala270Pro
ENST00000300784.7:c.808G>C
ENSP00000300784.7:p.Ala270Pro
NM_022158.3:c.808G>C
NP_071441.1:p.Ala270Pro
XM_024450872.1:c.658G>C
XP_024306640.1:p.Ala220Pro
NM_022158.4:c.808G>C
MANE Select
NP_071441.1:p.Ala270Pro
Search 100 bp 5'
Search 100 bp 3'