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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:
CA2480060214
Gene: LCE3C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1659891814
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152565377_152565412del , CM000663.2:g.152565377_152565412del
GRCh38
NC_000001.10:g.152537853_152537888del , CM000663.1:g.152537853_152537888del
GRCh37
NC_000001.9:g.150804477_150804512del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000617545.1:c.45-35414_45-35379del
ENSP00000482477.1:n.45-35414_45-35379del
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