Allele Registry

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.

Canonical Allele Identifier: PA098870

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14108

ClinVar RCV Id: RCV000211832 RCV000688025 RCV001570405 RCV002399325 RCV002468970 RCV000015164

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Ser532Pro	CA011011 NM_000257.4:c.1594T>C