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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:
PA2828363186
Gene: ALPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13664
ClinVar RCV Id:
RCV000014650
RCV000014651
RCV000014652
RCV000224505
RCV000589324
RCV002496362
RCV002276545
RCV004549362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356733.1:p.Asp294Ala
CA256921
NM_001369804.2:c.881A>C