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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:
CA1111331278
Gene: FGF20
HGNC
NCBI
Linked Data
dbSNP Id:
rs1809937780
gnomAD v3:
8-16992540-T-C
gnomAD v4:
8-16992540-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.16992540T>C , CM000670.2:g.16992540T>C
GRCh38
NC_000008.10:g.16850049T>C , CM000670.1:g.16850049T>C
GRCh37
NC_000008.9:g.16894420T>C
NCBI36
NG_015978.1:g.14626A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000180166.6:c.*532A>G
MANE Select
ENSP00000180166.5:n.*532A>G
ENST00000180166.5:c.*532A>G
ENSP00000180166.5:n.*532A>G
NM_019851.3:c.*532A>G
MANE Select
NP_062825.1:n.*532A>G
Search 100 bp 5'
Search 100 bp 3'