ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230289
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016191
ClinVar RCV Id:
RCV001315160
RCV004005081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Asn1678His
CA045048
NM_000257.4:c.5032A>C