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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:
PA2827559614
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360884
ClinVar RCV Id:
RCV000283819
RCV000343551
RCV000721826
RCV001700011
RCV002392920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337599.1:p.Ile367Met
CA4339171
NM_001350670.1:c.1101T>G