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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:
PA123763
Gene: MYH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14145
ClinVar RCV Id:
RCV000015208
RCV000486376
RCV000762979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002461.2:p.Ala234Thr
CA123762
NM_002470.4:c.700G>A