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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:
PA2825656156
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17955
ClinVar RCV Id:
RCV000151834
RCV000406073
RCV001701482
RCV002362589
RCV000019554
RCV000019553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121174.1:p.Val237Ala
CA127617
NM_001127702.2:c.710T>C