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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:
PA2826050262
Gene: FHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
569001
ClinVar RCV Id:
RCV000689527
RCV003144503
RCV003163133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161291.1:p.Val257Met
CA10525129
NM_001167819.1:c.769G>A