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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:
CA1860139898
Gene: FRMD3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.83549258_83549259delinsTC , CM000671.2:g.83549258_83549259delinsTC
GRCh38
NC_000009.11:g.86164173_86164174delinsTC , CM000671.1:g.86164173_86164174delinsTC
GRCh37
NC_000009.10:g.85353993_85353994delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014588.1:c.24+10911_24+10912delinsGA
XP_016870077.1:n.24+10911_24+10912delinsGA
XM_024447487.1:c.-142+25651_-142+25652delinsGA
XP_024303255.1:n.-142+25651_-142+25652delinsGA
XM_024447489.1:c.-142+25651_-142+25652delinsGA
XP_024303257.1:n.-142+25651_-142+25652delinsGA
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