ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230372
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1172468
ClinVar RCV Id:
RCV001526342
RCV003748348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Thr185Ile
CA389052557
NM_000257.4:c.554C>T