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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:
PA2828362524
Gene: ALPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857510
ClinVar RCV Id:
RCV001063193
RCV003448366
RCV004547968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356732.1:p.Ala345Val
CA338881051
NM_001369803.2:c.1034C>T