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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:
PA916055787
Gene: HOXA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
359969
ClinVar RCV Id:
RCV002418215
RCV000395378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705873.3:p.His65Pro
CA4196009
NM_153620.3:c.194A>C