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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:
PA2829308614
Gene: MTMR14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689462
ClinVar RCV Id:
RCV003488057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001387473.1:p.Arg146Leu
CA69965279
NM_001400544.1:c.437G>T