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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:
CA1030244049
Gene: EPCAM-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1668440932
gnomAD v3:
2-47254325-G-GGAGACA
gnomAD v4:
2-47254325-G-GGAGACA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.47254328_47254329insACAGAG , CM000664.2:g.47254328_47254329insACAGAG
GRCh38
NC_000002.11:g.47481467_47481468insACAGAG , CM000664.1:g.47481467_47481468insACAGAG
GRCh37
NC_000002.10:g.47334971_47334972insACAGAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110207.1:n.175-33003_175-33002insTGTCTC
NR_110208.1:n.404-54783_404-54782insTGTCTC
XR_001739451.1:n.606-1441_606-1440insTGTCTC
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