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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:
PA2825627923
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493312
ClinVar RCV Id:
RCV001984277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Tyr1977His
CA6198905
NM_001127180.2:c.5929T>C