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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:
PA645485309
Gene: HAL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310703
ClinVar RCV Id:
RCV000321077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002099.1:p.Pro598Leu
CA6727421
NM_002108.4:c.1793C>T