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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:
CA1201822936
Gene: FCER1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1652080380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159288831_159288842del , CM000663.2:g.159288831_159288842del
GRCh38
NC_000001.10:g.159258621_159258632del , CM000663.1:g.159258621_159258632del
GRCh37
NC_000001.9:g.157525245_157525256del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NM_002001.3:c.-97-885_-97-874del
NP_001992.1:n.-97-885_-97-874del
NM_002001.4:c.-97-885_-97-874del
NP_001992.1:n.-97-885_-97-874del
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