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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:
PA2580147796
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2180935
ClinVar RCV Id:
RCV002619513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Glu1032Lys
CA381944328
NM_001127180.2:c.3094G>A