ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA136017
Gene: MYO1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008625
RCV000038478
RCV001703414
ClinVar Variation:
8148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005370.1:p.Val306Met
CA136016
NM_005379.3:c.916G>A