ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346518
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180438
ClinVar RCV Id:
RCV000157362
RCV000225718
RCV001857554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Glu929Lys
CA013070
NM_000257.4:c.2785G>A