ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980674
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43340
ClinVar RCV Id:
RCV000036247
RCV000622429
RCV001291466
RCV001852752
RCV003323371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg241His
CA278714
NM_001127180.2:c.722G>A