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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:
PA2828807152
Gene: FREM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1990
ClinVar RCV Id:
RCV000002067
RCV000059639
RCV003987308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366010.1:p.Gly1440Ser
CA115306
NM_001379081.2:c.4318G>A