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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:
PA645419191
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365260
ClinVar RCV Id:
RCV000286574
RCV000413247
RCV000506573
RCV001376638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_446464.1:p.Lys310Arg
CA5283575
NM_054012.4:c.929A>G