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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:
PA2741963261
Gene: TRPM6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501859
ClinVar RCV Id:
RCV003228278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060132.3:p.Lys622Thr
CA373688541
NM_017662.5:c.1865A>C