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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:
PA2825060659
Gene: FECH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
327428
ClinVar RCV Id:
RCV000332701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000131.2:p.Gln285Arg
CA8973074
NM_000140.5:c.854A>G