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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:
PA2826232147
Gene: STRA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39742
ClinVar RCV Id:
RCV000032957
RCV000032958
RCV000724612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185970.1:p.Gly319Lys
CA130507
NM_001199041.2:c.955_956delinsAA