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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:
PA094945
Gene: SLC40A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5417
ClinVar RCV Id:
RCV000005750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055400.1:p.Gly80Val
CA117527
NM_014585.6:c.239G>T