ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180627
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177692
ClinVar RCV Id:
RCV000158746
RCV000706637
RCV002354363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Ala199Val
CA016513
NM_000257.4:c.596C>T