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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:
PA1139699267
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966461
ClinVar RCV Id:
RCV001241146
RCV001835093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Thr17Ala
CA5852730
NM_001318088.2:c.49A>G