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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:
PA645414507
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426607
ClinVar RCV Id:
RCV000489352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Leu24Val
CA389054021
NM_000257.4:c.70C>G