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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:
PA2580230177
Gene: ALPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2202719
ClinVar RCV Id:
RCV002648135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356734.1:p.Met295Val
CA338880203
NM_001369805.2:c.883A>G