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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:
CA2683676810
Gene: FZD1
HGNC
NCBI
Linked Data
gnomAD v4:
7-91264669-T-TTCTCCCCGCCGCCCGCGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.91264671_91264688dup , CM000669.2:g.91264671_91264688dup
GRCh38
NC_000007.13:g.90893986_90894003dup , CM000669.1:g.90893986_90894003dup
GRCh37
NC_000007.12:g.90731922_90731939dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000287934.4:c.-210_-193dup
MANE Select
ENSP00000287934.2:n.-210_-193dup
ENST00000287934.3:c.-210_-193dup
ENSP00000287934.2:n.-210_-193dup
NM_003505.1:c.-210_-193dup
NP_003496.1:n.-210_-193dup
NM_003505.2:c.-210_-193dup
MANE Select
NP_003496.1:n.-210_-193dup
Search 100 bp 5'
Search 100 bp 3'