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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:
PA915958973
Gene: KRT14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66319
ClinVar RCV Id:
RCV000056682
RCV002490637
RCV003915021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000517.3:p.Ala413Thr
CA216856
NM_000526.5:c.1237G>A