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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:
CA2366263928
Gene: EPPIN-WFDC6
HGNC
NCBI
EPPIN
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45547530_45547531delinsAG , CM000682.2:g.45547530_45547531delinsAG
GRCh38
NC_000020.10:g.44176169_44176170delinsAG , CM000682.1:g.44176169_44176170delinsAG
GRCh37
NC_000020.9:g.43609583_43609584delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651288.1:c.-174_-173delinsCT
(EPPIN-WFDC6)
ENSP00000498632.1:n.-174_-173delinsCT
ENST00000409554.1:c.-174_-173delinsCT
(EPPIN)
ENSP00000387153.1:n.-174_-173delinsCT
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