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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:
CA2653071012
Gene: EPPIN-WFDC6
HGNC
NCBI
EPPIN
HGNC
NCBI
Linked Data
gnomAD v4:
20-45547514-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45547514T>C , CM000682.2:g.45547514T>C
GRCh38
NC_000020.10:g.44176153T>C , CM000682.1:g.44176153T>C
GRCh37
NC_000020.9:g.43609567T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651288.1:c.-157A>G
(EPPIN-WFDC6)
ENSP00000498632.1:n.-157A>G
ENST00000409554.1:c.-157A>G
(EPPIN)
ENSP00000387153.1:n.-157A>G
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