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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:
PA2828186874
Gene: TPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12456
ClinVar RCV Id:
RCV000036340
RCV000159366
RCV000474684
RCV000622165
RCV001197088
RCV001170568
RCV000013272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352711.1:p.Asp139Asn
CA018106
NM_001365782.1:c.415G>A