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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:
CA1700819965
Gene: SFRP4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1786422110
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37952237_37952238insGCAT , CM000669.2:g.37952237_37952238insGCAT
GRCh38
NC_000007.13:g.37991839_37991840insGCAT , CM000669.1:g.37991839_37991840insGCAT
GRCh37
NC_000007.12:g.37958364_37958365insGCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000447200.2:c.-52-25461_-52-25460insCATG
ENSP00000402262.2:n.-52-25461_-52-25460in...
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