ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131723
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42826
ClinVar RCV Id:
RCV000035702
RCV000480078
RCV001618223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Lys383Arg
CA010281
NM_000257.4:c.1148A>G