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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:
PA2825268716
Gene: LRSAM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365027
ClinVar RCV Id:
RCV000476861
RCV001706606
RCV001174262
RCV002365435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005374.1:p.Gln409Glu
CA5246895
NM_001005374.4:c.1225C>G