ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248946
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218434
ClinVar RCV Id:
RCV000202758
RCV001185802
RCV001508721
RCV003586168
RCV004020492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000248.2:p.Ala1639Thr
CA248944
NM_000257.4:c.4915G>A