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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:
PA2826036354
Gene: AMACR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377239
ClinVar RCV Id:
RCV000442238
RCV002524732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161067.1:p.Leu149Ile
CA16603312
NM_001167595.2:c.445C>A