ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826369480
Gene: MYO1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8148
ClinVar RCV Id:
RCV000038478
RCV000008625
RCV001703414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001242970.1:p.Val306Met
CA136016
NM_001256041.2:c.916G>A