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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:
PA915958890
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
662972
ClinVar RCV Id:
RCV000820739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000128.1:p.Asn136Ser
CA7691146
NM_000137.4:c.407A>G