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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:
PA915981203
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43210
ClinVar RCV Id:
RCV000036114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Gln1178Pro
CA278651
NM_001127180.2:c.3533A>C