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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:
PA2827565256
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3116286
ClinVar RCV Id:
RCV004412150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337619.1:p.Asn399Asp
CA368150886
NM_001350690.1:c.1195A>G