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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
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Canonical Allele Identifier:
CA1892118089
Gene: FRMD4A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.14436507_14436508delinsAG , CM000672.2:g.14436507_14436508delinsAG
GRCh38
NC_000010.10:g.14478506_14478507delinsAG , CM000672.1:g.14478506_14478507delinsAG
GRCh37
NC_000010.9:g.14518512_14518513delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475141.2:c.-305+25560_-305+25561delinsCT
ENSP00000473870.1:n.-305+25560_-305+25561delinsCT
ENST00000493380.5:c.-82+25560_-82+25561delinsCT
ENSP00000474863.1:n.-82+25560_-82+25561delinsCT
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