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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:
CA2683676842
Gene: FZD1
HGNC
NCBI
Linked Data
gnomAD v4:
7-91264687-C-CGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.91264687_91264688insGA , CM000669.2:g.91264687_91264688insGA
GRCh38
NC_000007.13:g.90894002_90894003insGA , CM000669.1:g.90894002_90894003insGA
GRCh37
NC_000007.12:g.90731938_90731939insGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000287934.4:c.-194_-193insGA
MANE Select
ENSP00000287934.2:n.-194_-193insGA
ENST00000287934.3:c.-194_-193insGA
ENSP00000287934.2:n.-194_-193insGA
NM_003505.1:c.-194_-193insGA
NP_003496.1:n.-194_-193insGA
NM_003505.2:c.-194_-193insGA
MANE Select
NP_003496.1:n.-194_-193insGA
Search 100 bp 5'
Search 100 bp 3'